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1.  Are caregiving responsibilities associated with non-attendance at breast screening? 
BMC Public Health  2010;10:749.
Background
Previous research showed that deprived individuals are less likely to attend breast screening and those providing intense amounts of informal care tend to be more deprived than non-caregivers. The aim of this study was to examine the relationship between informal caregiving and uptake of breast screening and to determine if socio-economic gradients in screening attendance were explained by caregiving responsibilities.
Methods
A database of breast screening histories was linked to the Northern Ireland Longitudinal Study, which links information from census, vital events and health registration datasets. The cohort included women aged 47 - 64 at the time of the census eligible for breast screening in a three-year follow-up period. Cohort attributes were recorded at the Census. Multivariate logistic regression was used to examine the relationship between informal caregiving and uptake of screening using STATA version 10.
Results
37,211 women were invited for breast screening of whom 27,909 (75%) attended; 23.9% of the cohort were caregivers. Caregivers providing <20 hours of care/week were more affluent, while those providing >50 hours/week were more deprived than non-caregivers. Deprived women were significantly less likely to attend breast screening; however, this was not explained by caregiving responsibilities as caregivers were as likely as non-caregivers to attend (Odds Ratio 0.97; 95% confidence intervals 0.88, 1.06).
Conclusions
While those providing the most significant amounts of care tended to be more deprived, caregiving responsibilities themselves did not explain the known socio-economic gradients in breast screening attendance. More work is required to identify why more deprived women are less likely to attend breast screening.
doi:10.1186/1471-2458-10-749
PMCID: PMC3003649  PMID: 21129196
2.  Major ethnic group differences in breast cancer screening uptake in Scotland are not extinguished by adjustment for indices of geographical residence, area deprivation, long-term illness and education 
British Journal of Cancer  2012;106(8):1361-1366.
Background:
Breast cancer screening data generally show lower uptake in minority ethnic groups. We investigated whether such variations occur in Scotland.
Methods:
Using non-disclosive computerised linkage we combined Scottish breast screening and Census 2001 data. Non-attendance at first breast-screening invitation (2002–2008) was compared between 11 ethnic groups using age-adjusted risk ratios (RR) with 95% confidence intervals (CI), multiplied by 100, using Poisson regression.
Results:
Compared with the White Scottish (RR=100), non-attendance was similar for Other White British (99.5, 95% CI 96.1–103.2) and Chinese (112.8, 95% CI 96.3–132.2) and higher for Pakistani (181.7, 95% CI 164.9–200.2), African (162.2, 95% CI 130.8–201.1), Other South Asian (151.7, 95% CI 118.9–193.7) and Indian (141.7, 95% CI 121.1–165.7) groups. Adjustment for rural vs urban residence, long-term illness, area deprivation and education, associated with risk of non-attendance, increased the RR for non-attendance except for Pakistani women where it was modestly attenuated (RR=164.9, 149.4–182.1).
Conclusion:
Our data show important inequality in breast cancer screening uptake, not attenuated by potential confounding factors. Ethnic inequalities in breast screening attendance are of concern especially given evidence that the traditionally lower breast cancer rates in South Asian groups are converging towards the risks in the White UK population. Notwithstanding the forthcoming review of breast cancer screening, these data call for urgent action.
doi:10.1038/bjc.2012.83
PMCID: PMC3326672  PMID: 22415231
breast cancer; cancer screening; ethnicity; inequalities
3.  Cancer Screening with Digital Mammography for Women at Average Risk for Breast Cancer, Magnetic Resonance Imaging (MRI) for Women at High Risk 
Executive Summary
Objective
The purpose of this review is to determine the effectiveness of 2 separate modalities, digital mammography (DM) and magnetic resonance imaging (MRI), relative to film mammography (FM), in the screening of women asymptomatic for breast cancer. A third analysis assesses the effectiveness and safety of the combination of MRI plus mammography (MRI plus FM) in screening of women at high risk. An economic analysis was also conducted.
Research Questions
How does the sensitivity and specificity of DM compare to FM?
How does the sensitivity and specificity of MRI compare to FM?
How do the recall rates compare among these screening modalities, and what effect might this have on radiation exposure? What are the risks associated with radiation exposure?
How does the sensitivity and specificity of the combination of MRI plus FM compare to either MRI or FM alone?
What are the economic considerations?
Clinical Need
The effectiveness of FM with respect to breast cancer mortality in the screening of asymptomatic average- risk women over the age of 50 has been established. However, based on a Medical Advisory Secretariat review completed in March 2006, screening is not recommended for women between the ages of 40 and 49 years. Guidelines published by the Canadian Task Force on Preventive Care recommend mammography screening every 1 to 2 years for women aged 50 years and over, hence, the inclusion of such women in organized breast cancer screening programs. In addition to the uncertainty of the effectiveness of mammography screening from the age of 40 years, there is concern over the risks associated with mammographic screening for the 10 years between the ages of 40 and 49 years.
The lack of effectiveness of mammography screening starting at the age of 40 years (with respect to breast cancer mortality) is based on the assumption that the ability to detect cancer decreases with increased breast tissue density. As breast density is highest in the premenopausal years (approximately 23% of postmenopausal and 53% of premenopausal women having at least 50% of the breast occupied by high density), mammography screening is not promoted in Canada nor in many other countries for women under the age of 50 at average risk for breast cancer. It is important to note, however, that screening of premenopausal women (i.e., younger than 50 years of age) at high risk for breast cancer by virtue of a family history of cancer or a known genetic predisposition (e.g., having tested positive for the breast cancer genes BRCA1 and/or BRCA2) is appropriate. Thus, this review will assess the effectiveness of breast cancer screening with modalities other than film mammography, specifically DM and MRI, for both pre/perimenopausal and postmenopausal age groups.
International estimates of the epidemiology of breast cancer show that the incidence of breast cancer is increasing for all ages combined whereas mortality is decreasing, though at a slower rate. The observed decreases in mortality rates may be attributable to screening, in addition to advances in breast cancer therapy over time. Decreases in mortality attributable to screening may be a result of the earlier detection and treatment of invasive cancers, in addition to the increased detection of ductal carcinoma in situ (DCIS), of which certain subpathologies are less lethal. Evidence from the Surveillance, Epidemiology and End Results (better known as SEER) cancer registry in the United States, indicates that the age-adjusted incidence of DCIS has increased almost 10-fold over a 20 year period, from 2.7 to 25 per 100,000.
There is a 4-fold lower incidence of breast cancer in the 40 to 49 year age group than in the 50 to 69 year age group (approximately 140 per 100,000 versus 500 per 100,000 women, respectively). The sensitivity of FM is also lower among younger women (approximately 75%) than for women aged over 50 years (approximately 85%). Specificity is approximately 80% for younger women versus 90% for women over 50 years. The increased density of breast tissue in younger women is likely responsible for the decreased accuracy of FM.
Treatment options for breast cancer vary with the stage of disease (based on tumor size, involvement of surrounding tissue, and number of affected axillary lymph nodes) and its pathology, and may include a combination of surgery, chemotherapy and/or radiotherapy. Surgery is the first-line intervention for biopsy-confirmed tumors. The subsequent use of radiation, chemotherapy or hormonal treatments is dependent on the histopathologic characteristics of the tumor and the type of surgery. There is controversy regarding the optimal treatment of DCIS, which is considered a noninvasive tumour.
Women at high risk for breast cancer are defined as genetic carriers of the more commonly known breast cancer genes (BRCA1, BRCA2 TP53), first degree relatives of carriers, women with varying degrees of high risk family histories, and/or women with greater than 20% lifetime risk for breast cancer based on existing risk models. Genetic carriers for this disease, primarily women with BRCA1 or BRCA2 mutations, have a lifetime probability of approximately 85% of developing breast cancer. Preventive options for these women include surgical interventions such as prophylactic mastectomy and/or oophorectomy, i.e., removal of the breasts and/or ovaries. Therefore, it is important to evaluate the benefits and risks of different screening modalities, to identify additional options for these women.
This Medical Advisory Secretariat review is the second of 2 parts on breast cancer screening, and concentrates on the evaluation of both DM and MRI relative to FM, the standard of care. Part I of this review (March 2006) addressed the effectiveness of screening mammography in 40 to 49 year old average-risk women. The overall objective of the present review is to determine the optimal screening modality based on the evidence.
Evidence Review Strategy
The Medical Advisory Secretariat followed its standard procedures and searched the following electronic databases: Ovid MEDLINE, EMBASE, Ovid MEDLINE In-Process & Other Non-Indexed Citations, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews and The International Network of Agencies for Health Technology Assessment database. The subject headings and keywords searched included breast cancer, breast neoplasms, mass screening, digital mammography, magnetic resonance imaging. The detailed search strategies can be viewed in Appendix 1.
Included in this review are articles specific to screening and do not include evidence on diagnostic mammography. The search was further restricted to English-language articles published between January 1996 and April 2006. Excluded were case reports, comments, editorials, nonsystematic reviews, and letters.
Digital Mammography: In total, 224 articles specific to DM screening were identified. These were examined against the inclusion/exclusion criteria described below, resulting in the selection and review of 5 health technology assessments (HTAs) (plus 1 update) and 4 articles specific to screening with DM.
Magnetic Resonance Imaging: In total, 193 articles specific to MRI were identified. These were examined against the inclusion/exclusion criteria described below, resulting in the selection and review of 2 HTAs and 7 articles specific to screening with MRI.
The evaluation of the addition of FM to MRI in the screening of women at high risk for breast cancer was also conducted within the context of standard search procedures of the Medical Advisory Secretariat. as outlined above. The subject headings and keywords searched included the concepts of breast cancer, magnetic resonance imaging, mass screening, and high risk/predisposition to breast cancer. The search was further restricted to English-language articles published between September 2007 and January 15, 2010. Case reports, comments, editorials, nonsystematic reviews, and letters were not excluded.
MRI plus mammography: In total, 243 articles specific to MRI plus FM screening were identified. These were examined against the inclusion/exclusion criteria described below, resulting in the selection and review of 2 previous HTAs, and 1 systematic review of 11 paired design studies.
Inclusion Criteria
English-language articles, and English or French-language HTAs published from January 1996 to April 2006, inclusive.
Articles specific to screening of women with no personal history of breast cancer.
Studies in which DM or MRI were compared with FM, and where the specific outcomes of interest were reported.
Randomized controlled trials (RCTs) or paired studies only for assessment of DM.
Prospective, paired studies only for assessment of MRI.
Exclusion Criteria
Studies in which outcomes were not specific to those of interest in this report.
Studies in which women had been previously diagnosed with breast cancer.
Studies in which the intervention (DM or MRI) was not compared with FM.
Studies assessing DM with a sample size of less than 500.
Intervention
Digital mammography.
Magnetic resonance imaging.
Comparator
Screening with film mammography.
Outcomes of Interest
Breast cancer mortality (although no studies were found with such long follow-up).
Sensitivity.
Specificity.
Recall rates.
Summary of Findings
Digital Mammography
There is moderate quality evidence that DM is significantly more sensitive than FM in the screening of asymptomatic women aged less than 50 years, those who are premenopausal or perimenopausal, and those with heterogeneously or extremely dense breast tissue (regardless of age).
It is not known what effect these differences in sensitivity will have on the more important effectiveness outcome measure of breast cancer mortality, as there was no evidence of such an assessment.
Other factors have been set out to promote DM, for example, issues of recall rates and reading and examination times. Our analysis did not show that recall rates were necessarily improved in DM, though examination times were lower than for FM. Other factors including storage and retrieval of screens were not the subject of this analysis.
Magnetic Resonance Imaging
There is moderate quality evidence that the sensitivity of MRI is significantly higher than that of FM in the screening of women at high risk for breast cancer based on genetic or familial factors, regardless of age.
Radiation Risk Review
Cancer Care Ontario conducted a review of the evidence on radiation risk in screening with mammography women at high risk for breast cancer. From this review of recent literature and risk assessment that considered the potential impact of screening mammography in cohorts of women who start screening at an earlier age or who are at increased risk of developing breast cancer due to genetic susceptibility, the following conclusions can be drawn:
For women over 50 years of age, the benefits of mammography greatly outweigh the risk of radiation-induced breast cancer irrespective of the level of a woman’s inherent breast cancer risk.
Annual mammography for women aged 30 – 39 years who carry a breast cancer susceptibility gene or who have a strong family breast cancer history (defined as a first degree relative diagnosed in their thirties) has a favourable benefit:risk ratio. Mammography is estimated to detect 16 to 18 breast cancer cases for every one induced by radiation (Table 1). Initiation of screening at age 35 for this same group would increase the benefit:risk ratio to an even more favourable level of 34-50 cases detected for each one potentially induced.
Mammography for women under 30 years of age has an unfavourable benefit:risk ratio due to the challenges of detecting cancer in younger breasts, the aggressiveness of cancers at this age, the potential for radiation susceptibility at younger ages and a greater cumulative radiation exposure.
Mammography when used in combination with MRI for women who carry a strong breast cancer susceptibility (e.g., BRCA1/2 carriers), which if begun at age 35 and continued for 35 years, may confer greatly improved benefit:risk ratios which were estimated to be about 220 to one.
While there is considerable uncertainty in the risk of radiation-induced breast cancer, the risk expressed in published studies is almost certainly conservative as the radiation dose absorbed by women receiving mammography recently has been substantially reduced by newer technology.
A CCO update of the mammography radiation risk literature for 2008 and 2009 gave rise to one article by Barrington de Gonzales et al. published in 2009 (Barrington de Gonzales et al., 2009, JNCI, vol. 101: 205-209). This article focuses on estimating the risk of radiation-induced breast cancer for mammographic screening of young women at high risk for breast cancer (with BRCA gene mutations). Based on an assumption of a 15% to 25% or less reduction in mortality from mammography in these high risk women, the authors conclude that such a reduction is not substantially greater than the risk of radiation-induced breast cancer mortality when screening before the age of 34 years. That is, there would be no net benefit from annual mammographic screening of BRCA mutation carriers at ages 25-29 years; the net benefit would be zero or small if screening occurs in 30-34 year olds, and there would be some net benefit at age 35 years or older.
The Addition of Mammography to Magnetic Resonance Imaging
The effects of the addition of FM to MRI screening of high risk women was also assessed, with inclusion and exclusion criteria as follows:
Inclusion Criteria
English-language articles and English or French-language HTAs published from September 2007 to January 15, 2010.
Articles specific to screening of women at high risk for breast cancer, regardless of the definition of high risk.
Studies in which accuracy data for the combination of MRI plus FM are available to be compared to that of MRI and FM alone.
RCTs or prospective, paired studies only.
Studies in which women were previously diagnosed with breast cancer were also included.
Exclusion Criteria
Studies in which outcomes were not specific to those of interest in this report.
Studies in which there was insufficient data on the accuracy of MRI plus FM.
Intervention
Both MRI and FM.
Comparators
Screening with MRI alone and FM alone.
Outcomes of Interest
Sensitivity.
Specificity.
Summary of Findings
Magnetic Resonance Imaging Plus Mammography
Moderate GRADE Level Evidence that the sensitivity of MRI plus mammography is significantly higher than that of MRI or FM alone, although the specificity remains either unchanged or decreases in the screening of women at high risk for breast cancer based on genetic/familial factors, regardless of age.
These studies include women at high risk defined as BRCA1/2 or TP53 carriers, first degree relatives of carriers, women with varying degrees of high risk family histories, and/or >20% lifetime risk based on existing risk models. This definition of high risk accounts for approximately 2% of the female adult population in Ontario.
PMCID: PMC3377503  PMID: 23074406
4.  Comparison of breast and bowel cancer screening uptake patterns in a common cohort of South Asian women in England 
Background
Inequalities in uptake of cancer screening by ethnic minority populations are well documented in a number of international studies. However, most studies to date have explored screening uptake for a single cancer only. This paper compares breast and bowel cancer screening uptake for a cohort of South Asian women invited to undertake both, and similarly investigates these women's breast cancer screening behaviour over a period of fifteen years.
Methods
Screening data for rounds 1, 2 and 5 (1989-2004) of the NHS breast cancer screening programme and for round 1 of the NHS bowel screening pilot (2000-2002) were obtained for women aged 50-69 resident in the English bowel screening pilot site, Coventry and Warwickshire, who had been invited to undertake breast and bowel cancer screening in the period 2000-2002. Breast and bowel cancer screening uptake levels were calculated and compared using the chi-squared test.
Results
72,566 women were invited to breast and bowel cancer screening after exclusions. Of these, 3,539 were South Asian and 69,027 non-Asian; 18,730 had been invited to mammography over the previous fifteen years (rounds 1 to 5). South Asian women were significantly less likely to undertake both breast and bowel cancer screening; 29.9% (n = 1,057) compared to 59.4% (n = 40,969) for non-Asians (p < 0.001). Women in both groups who consistently chose to undertake breast cancer screening in rounds 1, 2 and 5 were more likely to complete round 1 bowel cancer screening. However, the likelihood of completion of bowel cancer screening was still significantly lower for South Asians; 49.5% vs. 82.3% for non-Asians, p < 0.001. South Asian women who undertook breast cancer screening in only one round were no more likely to complete bowel cancer screening than those who decided against breast cancer screening in all three rounds. In contrast, similar women in the non-Asian population had an increased likelihood of completing the new bowel cancer screening test. The likelihood of continued uptake of mammography after undertaking screening in round 1 differed between South Asian religio-linguistic groups. Noticeably, women in the Muslim population were less likely to continue to participate in mammography than those in other South Asian groups.
Conclusions
Culturally appropriate targeted interventions are required to reduce observed disparities in cancer screening uptakes.
doi:10.1186/1472-6963-10-103
PMCID: PMC2867962  PMID: 20423467
5.  Screening mammography uptake within Australia and Scotland in rural and urban populations 
Preventive Medicine Reports  2015;2:559-562.
Objective
To test the hypothesis that rural populations had lower uptake of screening mammography than urban populations in the Scottish and Australian setting.
Method
Scottish data are based upon information from the Scottish Breast Screening Programme Information System describing uptake among women residing within the NHS Highland Health Board area who were invited to attend for screening during the 2008 to 2010 round (N = 27,416). Australian data were drawn from the 2010 survey of the 1946–51 cohort of the Australian Longitudinal Study on Women's Health (N = 9890 women).
Results
Contrary to our hypothesis, results indicated that women living in rural areas were not less likely to attend for screening mammography compared to women living in urban areas in both Scotland (OR for rural = 1.17, 95% CI = 1.06–1.29) and Australia (OR for rural = 1.15, 95% CI = 1.01–1.31).
Conclusions
The absence of rural–urban differences in attendance at screening mammography demonstrates that rurality is not necessarily an insurmountable barrier to screening mammography.
Highlights
•Scotland and Australia provide free screening mammography for their populations.•Women living in rural areas can attend screening mammography via mobile units.•We examined rural–urban breast screening rates in Scotland and Australia.•Rural women were not less likely to attend screening mammography than urban women.•Rurality is not necessarily an insurmountable barrier to health service access.
doi:10.1016/j.pmedr.2015.06.014
PMCID: PMC4721451  PMID: 26844118
Breast neoplasms; Early detection of cancer; Healthcare disparities; Rural health; Rural health services; Rural population; Scotland; Australia; Health services; Health services accessibility
6.  Nationwide bowel cancer screening programme in England: cohort study of lifestyle factors affecting participation and outcomes in women 
British Journal of Cancer  2015;112(9):1562-1567.
Background:
In 2006, the National Health Service Bowel Cancer Screening Programme in England (NHSBCSP) began offering routine population-based biennial faecal occult blood testing (FOBt) at ages 60–69. There is, however, limited information on how characteristics of individuals affect participation and outcomes of screening, and we studied this association by linking NHSBCSP data to a large prospective cohort of women.
Methods:
Electronic linkage of the NHSBCSP and Million Women Study records identified 899 166 women in the study cohort with at least one invitation for screening. NHSBCSP provided information on screening acceptance, FOBt results, screen-detected colorectal cancer and other outcomes. The Million Women Study provided prospectively collected information on personal and lifestyle factors. Multiple regression was used to estimate relative risks (RRs) of factors associated with acceptance and outcomes of screening.
Results:
Overall, 70% of women (628 976/899 166) accepted their first invitation for bowel cancer screening, of whom 9133 (1.5%) were FOBt-positive, 743 (0.1%) had screen-detected colorectal cancer and 3056 (0.5%) had screen-detected colorectal adenoma. Acceptance was lower in women from the most than the least deprived tertile, in South Asians and in Blacks than in Whites, in current than in never smokers and in obese than in normal weight women: adjusted RRs (95% confidence interval) for acceptance vs not, 0.90 (0.90–0.90); 0.77 (0.75–79); 0.94 (0.92–0.96); 0.78 (0.77–0.78); and 0.88 (0.88–0.89), respectively: P<0.001 for each. These factors were also associated with an increased risk of being FOBt-positive and of having screen-detected adenoma, but were not strongly associated with the risk of screen-detected colorectal cancer. Relative risks for screen-detected adenoma were 1.22 (1.12–1.34), 2.46 (1.75–3.45), 1.61 (1.05–2.48), 1.53 (1.38–1.68) and 1.77 (1.60–1.95), respectively (P<0.001 for all, except for Blacks vs Whites P=0.03). Use of hormone therapy for menopause was associated with reduced risk of screen-detected adenoma, RR ever vs never use, 0.87 (0.81–0.93), P<0.001 and colorectal cancer, 0.78 (0.68–0.91), P=0.001.
Interpretation:
Among women in England, socioeconomic and lifestyle factors strongly affect participation in routine bowel cancer screening, risk of being FOBt-positive and risk of having screen-detected colorectal adenoma. However, screen-detected colorectal cancer risk is not strongly related to these factors.
doi:10.1038/bjc.2015.69
PMCID: PMC4453681  PMID: 25742470
colorectal cancer; screening; FOBt; endoscopy; participation; uptake
7.  Does the ‘Scottish effect’ apply to all ethnic groups? All-cancer, lung, colorectal, breast and prostate cancer in the Scottish Health and Ethnicity Linkage Cohort Study 
BMJ Open  2012;2(5):e001957.
Background and objectives
Although ethnic group variations in cancer exist, no multiethnic, population-based, longitudinal studies are available in Europe. Our objectives were to examine ethnic variation in all-cancer, and lung, colorectal, breast and prostate cancers.
Design, setting, population, measures and analysis
This retrospective cohort study of 4.65 million people linked the 2001 Scottish Census (providing ethnic group) to cancer databases. With the White Scottish population as reference (value 100), directly age standardised rates and ratios (DASR and DASRR), and risk ratios, by sex and ethnic group with 95% CI were calculated for first cancers. In the results below, 95% CI around the DASRR excludes 100. Eight indicators of socio-economic position were assessed as potential confounders across all groups.
Results
For all cancers the White Scottish population (100) had the highest DASRRs, Indians the lowest (men 45.9 and women 41.2) and White British (men 87.6 and women 87.3) and other groups were intermediate (eg, Chinese men 57.6). For lung cancer the DASRRs for Pakistani men (45.0), and women (53.5), were low and for any mixed background men high (174.5). For colorectal cancer the DASRRs were lowest in Pakistanis (men 32.9 and women 68.9), White British (men 82.4 and women 83.7), other White (men 77.2 and women 74.9) and Chinese men (42.6). Breast cancer in women was low in Pakistanis (62.2), Chinese (63.0) and White Irish (84.0). Prostate cancer was lowest in Pakistanis (38.7), Indian (62.6) and White Irish (85.4). No socio-economic indicator was a valid confounding variable across ethnic groups.
Conclusions
The ‘Scottish effect’ does not apply across ethnic groups for cancer. The findings have implications for clinical care, prevention and screening, for example, responding appropriately to the known low uptake among South Asian populations of bowel screening might benefit from modelling of cost-effectiveness of screening, given comparatively low cancer rates.
doi:10.1136/bmjopen-2012-001957
PMCID: PMC3467629  PMID: 23012329
Epidemiology
8.  Human genome meeting 2016 
Srivastava, A. K. | Wang, Y. | Huang, R. | Skinner, C. | Thompson, T. | Pollard, L. | Wood, T. | Luo, F. | Stevenson, R. | Polimanti, R. | Gelernter, J. | Lin, X. | Lim, I. Y. | Wu, Y. | Teh, A. L. | Chen, L. | Aris, I. M. | Soh, S. E. | Tint, M. T. | MacIsaac, J. L. | Yap, F. | Kwek, K. | Saw, S. M. | Kobor, M. S. | Meaney, M. J. | Godfrey, K. M. | Chong, Y. S. | Holbrook, J. D. | Lee, Y. S. | Gluckman, P. D. | Karnani, N. | Kapoor, A. | Lee, D. | Chakravarti, A. | Maercker, C. | Graf, F. | Boutros, M. | Stamoulis, G. | Santoni, F. | Makrythanasis, P. | Letourneau, A. | Guipponi, M. | Panousis, N. | Garieri, M. | Ribaux, P. | Falconnet, E. | Borel, C. | Antonarakis, S. E. | Kumar, S. | Curran, J. | Blangero, J. | Chatterjee, S. | Kapoor, A. | Akiyama, J. | Auer, D. | Berrios, C. | Pennacchio, L. | Chakravarti, A. | Donti, T. R. | Cappuccio, G. | Miller, M. | Atwal, P. | Kennedy, A. | Cardon, A. | Bacino, C. | Emrick, L. | Hertecant, J. | Baumer, F. | Porter, B. | Bainbridge, M. | Bonnen, P. | Graham, B. | Sutton, R. | Sun, Q. | Elsea, S. | Hu, Z. | Wang, P. | Zhu, Y. | Zhao, J. | Xiong, M. | Bennett, David A. | Hidalgo-Miranda, A. | Romero-Cordoba, S. | Rodriguez-Cuevas, S. | Rebollar-Vega, R. | Tagliabue, E. | Iorio, M. | D’Ippolito, E. | Baroni, S. | Kaczkowski, B. | Tanaka, Y. | Kawaji, H. | Sandelin, A. | Andersson, R. | Itoh, M. | Lassmann, T. | Hayashizaki, Y. | Carninci, P. | Forrest, A. R. R. | Semple, C. A. | Rosenthal, E. A. | Shirts, B. | Amendola, L. | Gallego, C. | Horike-Pyne, M. | Burt, A. | Robertson, P. | Beyers, P. | Nefcy, C. | Veenstra, D. | Hisama, F. | Bennett, R. | Dorschner, M. | Nickerson, D. | Smith, J. | Patterson, K. | Crosslin, D. | Nassir, R. | Zubair, N. | Harrison, T. | Peters, U. | Jarvik, G. | Menghi, F. | Inaki, K. | Woo, X. | Kumar, P. | Grzeda, K. | Malhotra, A. | Kim, H. | Ucar, D. | Shreckengast, P. | Karuturi, K. | Keck, J. | Chuang, J. | Liu, E. T. | Ji, B. | Tyler, A. | Ananda, G. | Carter, G. | Nikbakht, H. | Montagne, M. | Zeinieh, M. | Harutyunyan, A. | Mcconechy, M. | Jabado, N. | Lavigne, P. | Majewski, J. | Goldstein, J. B. | Overman, M. | Varadhachary, G. | Shroff, R. | Wolff, R. | Javle, M. | Futreal, A. | Fogelman, D. | Bravo, L. | Fajardo, W. | Gomez, H. | Castaneda, C. | Rolfo, C. | Pinto, J. A. | Akdemir, K. C. | Chin, L. | Futreal, A. | Patterson, S. | Statz, C. | Mockus, S. | Nikolaev, S. N. | Bonilla, X. I. | Parmentier, L. | King, B. | Bezrukov, F. | Kaya, G. | Zoete, V. | Seplyarskiy, V. | Sharpe, H. | McKee, T. | Letourneau, A. | Ribaux, P. | Popadin, K. | Basset-Seguin, N. | Chaabene, R. Ben | Santoni, F. | Andrianova, M. | Guipponi, M. | Garieri, M. | Verdan, C. | Grosdemange, K. | Sumara, O. | Eilers, M. | Aifantis, I. | Michielin, O. | de Sauvage, F. | Antonarakis, S. | Likhitrattanapisal, S. | Lincoln, S. | Kurian, A. | Desmond, A. | Yang, S. | Kobayashi, Y. | Ford, J. | Ellisen, L. | Peters, T. L. | Alvarez, K. R. | Hollingsworth, E. F. | Lopez-Terrada, D. H. | Hastie, A. | Dzakula, Z. | Pang, A. W. | Lam, E. T. | Anantharaman, T. | Saghbini, M. | Cao, H. | Gonzaga-Jauregui, C. | Ma, L. | King, A. | Rosenzweig, E. Berman | Krishnan, U. | Reid, J. G. | Overton, J. D. | Dewey, F. | Chung, W. K. | Small, K. | DeLuca, A. | Cremers, F. | Lewis, R. A. | Puech, V. | Bakall, B. | Silva-Garcia, R. | Rohrschneider, K. | Leys, M. | Shaya, F. S. | Stone, E. | Sobreira, N. L. | Schiettecatte, F. | Ling, H. | Pugh, E. | Witmer, D. | Hetrick, K. | Zhang, P. | Doheny, K. | Valle, D. | Hamosh, A. | Jhangiani, S. N. | Akdemir, Z. Coban | Bainbridge, M. N. | Charng, W. | Wiszniewski, W. | Gambin, T. | Karaca, E. | Bayram, Y. | Eldomery, M. K. | Posey, J. | Doddapaneni, H. | Hu, J. | Sutton, V. R. | Muzny, D. M. | Boerwinkle, E. A. | Valle, D. | Lupski, J. R. | Gibbs, R. A. | Shekar, S. | Salerno, W. | English, A. | Mangubat, A. | Bruestle, J. | Thorogood, A. | Knoppers, B. M. | Takahashi, H. | Nitta, K. R. | Kozhuharova, A. | Suzuki, A. M. | Sharma, H. | Cotella, D. | Santoro, C. | Zucchelli, S. | Gustincich, S. | Carninci, P. | Mulvihill, J. J. | Baynam, G. | Gahl, W. | Groft, S. C. | Kosaki, K. | Lasko, P. | Melegh, B. | Taruscio, D. | Ghosh, R. | Plon, S. | Scherer, S. | Qin, X. | Sanghvi, R. | Walker, K. | Chiang, T. | Muzny, D. | Wang, L. | Black, J. | Boerwinkle, E. | Weinshilboum, R. | Gibbs, R. | Karpinets, T. | Calderone, T. | Wani, K. | Yu, X. | Creasy, C. | Haymaker, C. | Forget, M. | Nanda, V. | Roszik, J. | Wargo, J. | Haydu, L. | Song, X. | Lazar, A. | Gershenwald, J. | Davies, M. | Bernatchez, C. | Zhang, J. | Futreal, A. | Woodman, S. | Chesler, E. J. | Reynolds, T. | Bubier, J. A. | Phillips, C. | Langston, M. A. | Baker, E. J. | Xiong, M. | Ma, L. | Lin, N. | Amos, C. | Lin, N. | Wang, P. | Zhu, Y. | Zhao, J. | Calhoun, V. | Xiong, M. | Dobretsberger, O. | Egger, M. | Leimgruber, F. | Sadedin, S. | Oshlack, A. | Antonio, V. A. A. | Ono, N. | Ahmed, Z. | Bolisetty, M. | Zeeshan, S. | Anguiano, E. | Ucar, D. | Sarkar, A. | Nandineni, M. R. | Zeng, C. | Shao, J. | Cao, H. | Hastie, A. | Pang, A. W. | Lam, E. T. | Liang, T. | Pham, K. | Saghbini, M. | Dzakula, Z. | Chee-Wei, Y. | Dongsheng, L. | Lai-Ping, W. | Lian, D. | Hee, R. O. Twee | Yunus, Y. | Aghakhanian, F. | Mokhtar, S. S. | Lok-Yung, C. V. | Bhak, J. | Phipps, M. | Shuhua, X. | Yik-Ying, T. | Kumar, V. | Boon-Peng, H. | Campbell, I. | Young, M. -A. | James, P. | Rain, M. | Mohammad, G. | Kukreti, R. | Pasha, Q. | Akilzhanova, A. R. | Guelly, C. | Abilova, Z. | Rakhimova, S. | Akhmetova, A. | Kairov, U. | Trajanoski, S. | Zhumadilov, Z. | Bekbossynova, M. | Schumacher, C. | Sandhu, S. | Harkins, T. | Makarov, V. | Doddapaneni, H. | Glenn, R. | Momin, Z. | Dilrukshi, B. | Chao, H. | Meng, Q. | Gudenkauf, B. | Kshitij, R. | Jayaseelan, J. | Nessner, C. | Lee, S. | Blankenberg, K. | Lewis, L. | Hu, J. | Han, Y. | Dinh, H. | Jireh, S. | Walker, K. | Boerwinkle, E. | Muzny, D. | Gibbs, R. | Hu, J. | Walker, K. | Buhay, C. | Liu, X. | Wang, Q. | Sanghvi, R. | Doddapaneni, H. | Ding, Y. | Veeraraghavan, N. | Yang, Y. | Boerwinkle, E. | Beaudet, A. L. | Eng, C. M. | Muzny, D. M. | Gibbs, R. A. | Worley, K. C. C. | Liu, Y. | Hughes, D. S. T. | Murali, S. C. | Harris, R. A. | English, A. C. | Qin, X. | Hampton, O. A. | Larsen, P. | Beck, C. | Han, Y. | Wang, M. | Doddapaneni, H. | Kovar, C. L. | Salerno, W. J. | Yoder, A. | Richards, S. | Rogers, J. | Lupski, J. R. | Muzny, D. M. | Gibbs, R. A. | Meng, Q. | Bainbridge, M. | Wang, M. | Doddapaneni, H. | Han, Y. | Muzny, D. | Gibbs, R. | Harris, R. A. | Raveenedran, M. | Xue, C. | Dahdouli, M. | Cox, L. | Fan, G. | Ferguson, B. | Hovarth, J. | Johnson, Z. | Kanthaswamy, S. | Kubisch, M. | Platt, M. | Smith, D. | Vallender, E. | Wiseman, R. | Liu, X. | Below, J. | Muzny, D. | Gibbs, R. | Yu, F. | Rogers, J. | Lin, J. | Zhang, Y. | Ouyang, Z. | Moore, A. | Wang, Z. | Hofmann, J. | Purdue, M. | Stolzenberg-Solomon, R. | Weinstein, S. | Albanes, D. | Liu, C. S. | Cheng, W. L. | Lin, T. T. | Lan, Q. | Rothman, N. | Berndt, S. | Chen, E. S. | Bahrami, H. | Khoshzaban, A. | Keshal, S. Heidari | Bahrami, H. | Khoshzaban, A. | Keshal, S. Heidari | Alharbi, K. K. R. | Zhalbinova, M. | Akilzhanova, A. | Rakhimova, S. | Bekbosynova, M. | Myrzakhmetova, S. | Matar, M. | Mili, N. | Molinari, R. | Ma, Y. | Guerrier, S. | Elhawary, N. | Tayeb, M. | Bogari, N. | Qotb, N. | McClymont, S. A. | Hook, P. W. | Goff, L. A. | McCallion, A. | Kong, Y. | Charette, J. R. | Hicks, W. L. | Naggert, J. K. | Zhao, L. | Nishina, P. M. | Edrees, B. M. | Athar, M. | Al-Allaf, F. A. | Taher, M. M. | Khan, W. | Bouazzaoui, A. | Harbi, N. A. | Safar, R. | Al-Edressi, H. | Anazi, A. | Altayeb, N. | Ahmed, M. A. | Alansary, K. | Abduljaleel, Z. | Kratz, A. | Beguin, P. | Poulain, S. | Kaneko, M. | Takahiko, C. | Matsunaga, A. | Kato, S. | Suzuki, A. M. | Bertin, N. | Lassmann, T. | Vigot, R. | Carninci, P. | Plessy, C. | Launey, T. | Graur, D. | Lee, D. | Kapoor, A. | Chakravarti, A. | Friis-Nielsen, J. | Izarzugaza, J. M. | Brunak, S. | Chakraborty, A. | Basak, J. | Mukhopadhyay, A. | Soibam, B. S. | Das, D. | Biswas, N. | Das, S. | Sarkar, S. | Maitra, A. | Panda, C. | Majumder, P. | Morsy, H. | Gaballah, A. | Samir, M. | Shamseya, M. | Mahrous, H. | Ghazal, A. | Arafat, W. | Hashish, M. | Gruber, J. J. | Jaeger, N. | Snyder, M. | Patel, K. | Bowman, S. | Davis, T. | Kraushaar, D. | Emerman, A. | Russello, S. | Henig, N. | Hendrickson, C. | Zhang, K. | Rodriguez-Dorantes, M. | Cruz-Hernandez, C. D. | Garcia-Tobilla, C. D. P. | Solorzano-Rosales, S. | Jäger, N. | Chen, J. | Haile, R. | Hitchins, M. | Brooks, J. D. | Snyder, M. | Jiménez-Morales, S. | Ramírez, M. | Nuñez, J. | Bekker, V. | Leal, Y. | Jiménez, E. | Medina, A. | Hidalgo, A. | Mejía, J. | Halytskiy, V. | Naggert, J. | Collin, G. B. | DeMauro, K. | Hanusek, R. | Nishina, P. M. | Belhassa, K. | Belhassan, K. | Bouguenouch, L. | Samri, I. | Sayel, H. | moufid, FZ. | El Bouchikhi, I. | Trhanint, S. | Hamdaoui, H. | Elotmani, I. | Khtiri, I. | Kettani, O. | Quibibo, L. | Ahagoud, M. | Abbassi, M. | Ouldim, K. | Marusin, A. V. | Kornetov, A. N. | Swarovskaya, M. | Vagaiceva, K. | Stepanov, V. | De La Paz, E. M. Cutiongco | Sy, R. | Nevado, J. | Reganit, P. | Santos, L. | Magno, J. D. | Punzalan, F. E. | Ona, D. | Llanes, E. | Santos-Cortes, R. L. | Tiongco, R. | Aherrera, J. | Abrahan, L. | Pagauitan-Alan, P. | Morelli, K. H. | Domire, J. S. | Pyne, N. | Harper, S. | Burgess, R. | Zhalbinova, M. | Akilzhanova, A. | Rakhimova, S. | Bekbosynova, M. | Myrzakhmetova, S. | Gari, M. A. | Dallol, A. | Alsehli, H. | Gari, A. | Gari, M. | Abuzenadah, A. | Thomas, M. | Sukhai, M. | Garg, S. | Misyura, M. | Zhang, T. | Schuh, A. | Stockley, T. | Kamel-Reid, S. | Sherry, S. | Xiao, C. | Slotta, D. | Rodarmer, K. | Feolo, M. | Kimelman, M. | Godynskiy, G. | O’Sullivan, C. | Yaschenko, E. | Xiao, C. | Yaschenko, E. | Sherry, S. | Rangel-Escareño, C. | Rueda-Zarate, H. | Tayubi, I. A. | Mohammed, R. | Ahmed, I. | Ahmed, T. | Seth, S. | Amin, S. | Song, X. | Mao, X. | Sun, H. | Verhaak, R. G. | Futreal, A. | Zhang, J. | Whiite, S. J. | Chiang, T. | English, A. | Farek, J. | Kahn, Z. | Salerno, W. | Veeraraghavan, N. | Boerwinkle, E. | Gibbs, R. | Kasukawa, T. | Lizio, M. | Harshbarger, J. | Hisashi, S. | Severin, J. | Imad, A. | Sahin, S. | Freeman, T. C. | Baillie, K. | Sandelin, A. | Carninci, P. | Forrest, A. R. R. | Kawaji, H. | Salerno, W. | English, A. | Shekar, S. N. | Mangubat, A. | Bruestle, J. | Boerwinkle, E. | Gibbs, R. A. | Salem, A. H. | Ali, M. | Ibrahim, A. | Ibrahim, M. | Barrera, H. A. | Garza, L. | Torres, J. A. | Barajas, V. | Ulloa-Aguirre, A. | Kershenobich, D. | Mortaji, Shahroj | Guizar, Pedro | Loera, Eliezer | Moreno, Karen | De León, Adriana | Monsiváis, Daniela | Gómez, Jackeline | Cardiel, Raquel | Fernandez-Lopez, J. C. | Bonifaz-Peña, V. | Rangel-Escareño, C. | Hidalgo-Miranda, A. | Contreras, A. V. | Polfus, L. | Wang, X. | Philip, V. | Carter, G. | Abuzenadah, A. A. | Gari, M. | Turki, R. | Dallol, A. | Uyar, A. | Kaygun, A. | Zaman, S. | Marquez, E. | George, J. | Ucar, D. | Hendrickson, C. L. | Emerman, A. | Kraushaar, D. | Bowman, S. | Henig, N. | Davis, T. | Russello, S. | Patel, K. | Starr, D. B. | Baird, M. | Kirkpatrick, B. | Sheets, K. | Nitsche, R. | Prieto-Lafuente, L. | Landrum, M. | Lee, J. | Rubinstein, W. | Maglott, D. | Thavanati, P. K. R. | de Dios, A. Escoto | Hernandez, R. E. Navarro | Aldrate, M. E. Aguilar | Mejia, M. R. Ruiz | Kanala, K. R. R. | Abduljaleel, Z. | Khan, W. | Al-Allaf, F. A. | Athar, M. | Taher, M. M. | Shahzad, N. | Bouazzaoui, A. | Huber, E. | Dan, A. | Al-Allaf, F. A. | Herr, W. | Sprotte, G. | Köstler, J. | Hiergeist, A. | Gessner, A. | Andreesen, R. | Holler, E. | Al-Allaf, F. | Alashwal, A. | Abduljaleel, Z. | Taher, M. | Bouazzaoui, A. | Abalkhail, H. | Al-Allaf, A. | Bamardadh, R. | Athar, M. | Filiptsova, O. | Kobets, M. | Kobets, Y. | Burlaka, I. | Timoshyna, I. | Filiptsova, O. | Kobets, M. N. | Kobets, Y. | Burlaka, I. | Timoshyna, I. | Filiptsova, O. | Kobets, M. N. | Kobets, Y. | Burlaka, I. | Timoshyna, I. | Al-allaf, F. A. | Mohiuddin, M. T. | Zainularifeen, A. | Mohammed, A. | Abalkhail, H. | Owaidah, T. | Bouazzaoui, A.
Human Genomics  2016;10(Suppl 1):12.
Table of contents
O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder
A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson
O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents
R. Polimanti, J. Gelernter
O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort
X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group
O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus
A. Kapoor, D. Lee, A. Chakravarti
O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells
C. Maercker, F. Graf, M. Boutros
O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies
G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis
O7 Role of microRNA in LCL to IPSC reprogramming
S. Kumar, J. Curran, J. Blangero
O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease
S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti
O9 Metabolomic profiling for the diagnosis of neurometabolic disorders
T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea
O10 A novel causal methylation network approach to Alzheimer’s disease
Z. Hu, P. Wang, Y. Zhu, J. Zhao, M. Xiong, David A Bennett
O11 A microRNA signature identifies subtypes of triple-negative breast cancer and reveals MIR-342-3P as regulator of a lactate metabolic pathway
A. Hidalgo-Miranda, S. Romero-Cordoba, S. Rodriguez-Cuevas, R. Rebollar-Vega, E. Tagliabue, M. Iorio, E. D’Ippolito, S. Baroni
O12 Transcriptome analysis identifies genes, enhancer RNAs and repetitive elements that are recurrently deregulated across multiple cancer types
B. Kaczkowski, Y. Tanaka, H. Kawaji, A. Sandelin, R. Andersson, M. Itoh, T. Lassmann, the FANTOM5 consortium, Y. Hayashizaki, P. Carninci, A. R. R. Forrest
O13 Elevated mutation and widespread loss of constraint at regulatory and architectural binding sites across 11 tumour types
C. A. Semple
O14 Exome sequencing provides evidence of pathogenicity for genes implicated in colorectal cancer
E. A. Rosenthal, B. Shirts, L. Amendola, C. Gallego, M. Horike-Pyne, A. Burt, P. Robertson, P. Beyers, C. Nefcy, D. Veenstra, F. Hisama, R. Bennett, M. Dorschner, D. Nickerson, J. Smith, K. Patterson, D. Crosslin, R. Nassir, N. Zubair, T. Harrison, U. Peters, G. Jarvik, NHLBI GO Exome Sequencing Project
O15 The tandem duplicator phenotype as a distinct genomic configuration in cancer
F. Menghi, K. Inaki, X. Woo, P. Kumar, K. Grzeda, A. Malhotra, H. Kim, D. Ucar, P. Shreckengast, K. Karuturi, J. Keck, J. Chuang, E. T. Liu
O16 Modeling genetic interactions associated with molecular subtypes of breast cancer
B. Ji, A. Tyler, G. Ananda, G. Carter
O17 Recurrent somatic mutation in the MYC associated factor X in brain tumors
H. Nikbakht, M. Montagne, M. Zeinieh, A. Harutyunyan, M. Mcconechy, N. Jabado, P. Lavigne, J. Majewski
O18 Predictive biomarkers to metastatic pancreatic cancer treatment
J. B. Goldstein, M. Overman, G. Varadhachary, R. Shroff, R. Wolff, M. Javle, A. Futreal, D. Fogelman
O19 DDIT4 gene expression as a prognostic marker in several malignant tumors
L. Bravo, W. Fajardo, H. Gomez, C. Castaneda, C. Rolfo, J. A. Pinto
O20 Spatial organization of the genome and genomic alterations in human cancers
K. C. Akdemir, L. Chin, A. Futreal, ICGC PCAWG Structural Alterations Group
O21 Landscape of targeted therapies in solid tumors
S. Patterson, C. Statz, S. Mockus
O22 Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma
S. N. Nikolaev, X. I. Bonilla, L. Parmentier, B. King, F. Bezrukov, G. Kaya, V. Zoete, V. Seplyarskiy, H. Sharpe, T. McKee, A. Letourneau, P. Ribaux, K. Popadin, N. Basset-Seguin, R. Ben Chaabene, F. Santoni, M. Andrianova, M. Guipponi, M. Garieri, C. Verdan, K. Grosdemange, O. Sumara, M. Eilers, I. Aifantis, O. Michielin, F. de Sauvage, S. Antonarakis
O23 Identification of differential biomarkers of hepatocellular carcinoma and cholangiocarcinoma via transcriptome microarray meta-analysis
S. Likhitrattanapisal
O24 Clinical validity and actionability of multigene tests for hereditary cancers in a large multi-center study
S. Lincoln, A. Kurian, A. Desmond, S. Yang, Y. Kobayashi, J. Ford, L. Ellisen
O25 Correlation with tumor ploidy status is essential for correct determination of genome-wide copy number changes by SNP array
T. L. Peters, K. R. Alvarez, E. F. Hollingsworth, D. H. Lopez-Terrada
O26 Nanochannel based next-generation mapping for interrogation of clinically relevant structural variation
A. Hastie, Z. Dzakula, A. W. Pang, E. T. Lam, T. Anantharaman, M. Saghbini, H. Cao, BioNano Genomics
O27 Mutation spectrum in a pulmonary arterial hypertension (PAH) cohort and identification of associated truncating mutations in TBX4
C. Gonzaga-Jauregui, L. Ma, A. King, E. Berman Rosenzweig, U. Krishnan, J. G. Reid, J. D. Overton, F. Dewey, W. K. Chung
O28 NORTH CAROLINA macular dystrophy (MCDR1): mutations found affecting PRDM13
K. Small, A. DeLuca, F. Cremers, R. A. Lewis, V. Puech, B. Bakall, R. Silva-Garcia, K. Rohrschneider, M. Leys, F. S. Shaya, E. Stone
O29 PhenoDB and genematcher, solving unsolved whole exome sequencing data
N. L. Sobreira, F. Schiettecatte, H. Ling, E. Pugh, D. Witmer, K. Hetrick, P. Zhang, K. Doheny, D. Valle, A. Hamosh
O30 Baylor-Johns Hopkins Center for Mendelian genomics: a four year review
S. N. Jhangiani, Z. Coban Akdemir, M. N. Bainbridge, W. Charng, W. Wiszniewski, T. Gambin, E. Karaca, Y. Bayram, M. K. Eldomery, J. Posey, H. Doddapaneni, J. Hu, V. R. Sutton, D. M. Muzny, E. A. Boerwinkle, D. Valle, J. R. Lupski, R. A. Gibbs
O31 Using read overlap assembly to accurately identify structural genetic differences in an ashkenazi jewish trio
S. Shekar, W. Salerno, A. English, A. Mangubat, J. Bruestle
O32 Legal interoperability: a sine qua non for international data sharing
A. Thorogood, B. M. Knoppers, Global Alliance for Genomics and Health - Regulatory and Ethics Working Group
O33 High throughput screening platform of competent sineups: that can enhance translation activities of therapeutic target
H. Takahashi, K. R. Nitta, A. Kozhuharova, A. M. Suzuki, H. Sharma, D. Cotella, C. Santoro, S. Zucchelli, S. Gustincich, P. Carninci
O34 The undiagnosed diseases network international (UDNI): clinical and laboratory research to meet patient needs
J. J. Mulvihill, G. Baynam, W. Gahl, S. C. Groft, K. Kosaki, P. Lasko, B. Melegh, D. Taruscio
O36 Performance of computational algorithms in pathogenicity predictions for activating variants in oncogenes versus loss of function mutations in tumor suppressor genes
R. Ghosh, S. Plon
O37 Identification and electronic health record incorporation of clinically actionable pharmacogenomic variants using prospective targeted sequencing
S. Scherer, X. Qin, R. Sanghvi, K. Walker, T. Chiang, D. Muzny, L. Wang, J. Black, E. Boerwinkle, R. Weinshilboum, R. Gibbs
O38 Melanoma reprogramming state correlates with response to CTLA-4 blockade in metastatic melanoma
T. Karpinets, T. Calderone, K. Wani, X. Yu, C. Creasy, C. Haymaker, M. Forget, V. Nanda, J. Roszik, J. Wargo, L. Haydu, X. Song, A. Lazar, J. Gershenwald, M. Davies, C. Bernatchez, J. Zhang, A. Futreal, S. Woodman
O39 Data-driven refinement of complex disease classification from integration of heterogeneous functional genomics data in GeneWeaver
E. J. Chesler, T. Reynolds, J. A. Bubier, C. Phillips, M. A. Langston, E. J. Baker
O40 A general statistic framework for genome-based disease risk prediction
M. Xiong, L. Ma, N. Lin, C. Amos
O41 Integrative large-scale causal network analysis of imaging and genomic data and its application in schizophrenia studies
N. Lin, P. Wang, Y. Zhu, J. Zhao, V. Calhoun, M. Xiong
O42 Big data and NGS data analysis: the cloud to the rescue
O. Dobretsberger, M. Egger, F. Leimgruber
O43 Cpipe: a convergent clinical exome pipeline specialised for targeted sequencing
S. Sadedin, A. Oshlack, Melbourne Genomics Health Alliance
O44 A Bayesian classification of biomedical images using feature extraction from deep neural networks implemented on lung cancer data
V. A. A. Antonio, N. Ono, Clark Kendrick C. Go
O45 MAV-SEQ: an interactive platform for the Management, Analysis, and Visualization of sequence data
Z. Ahmed, M. Bolisetty, S. Zeeshan, E. Anguiano, D. Ucar
O47 Allele specific enhancer in EPAS1 intronic regions may contribute to high altitude adaptation of Tibetans
C. Zeng, J. Shao
O48 Nanochannel based next-generation mapping for structural variation detection and comparison in trios and populations
H. Cao, A. Hastie, A. W. Pang, E. T. Lam, T. Liang, K. Pham, M. Saghbini, Z. Dzakula
O49 Archaic introgression in indigenous populations of Malaysia revealed by whole genome sequencing
Y. Chee-Wei, L. Dongsheng, W. Lai-Ping, D. Lian, R. O. Twee Hee, Y. Yunus, F. Aghakhanian, S. S. Mokhtar, C. V. Lok-Yung, J. Bhak, M. Phipps, X. Shuhua, T. Yik-Ying, V. Kumar, H. Boon-Peng
O50 Breast and ovarian cancer prevention: is it time for population-based mutation screening of high risk genes?
I. Campbell, M.-A. Young, P. James, Lifepool
O53 Comprehensive coverage from low DNA input using novel NGS library preparation methods for WGS and WGBS
C. Schumacher, S. Sandhu, T. Harkins, V. Makarov
O54 Methods for large scale construction of robust PCR-free libraries for sequencing on Illumina HiSeqX platform
H. DoddapaneniR. Glenn, Z. Momin, B. Dilrukshi, H. Chao, Q. Meng, B. Gudenkauf, R. Kshitij, J. Jayaseelan, C. Nessner, S. Lee, K. Blankenberg, L. Lewis, J. Hu, Y. Han, H. Dinh, S. Jireh, K. Walker, E. Boerwinkle, D. Muzny, R. Gibbs
O55 Rapid capture methods for clinical sequencing
J. Hu, K. Walker, C. Buhay, X. Liu, Q. Wang, R. Sanghvi, H. Doddapaneni, Y. Ding, N. Veeraraghavan, Y. Yang, E. Boerwinkle, A. L. Beaudet, C. M. Eng, D. M. Muzny, R. A. Gibbs
O56 A diploid personal human genome model for better genomes from diverse sequence data
K. C. C. Worley, Y. Liu, D. S. T. Hughes, S. C. Murali, R. A. Harris, A. C. English, X. Qin, O. A. Hampton, P. Larsen, C. Beck, Y. Han, M. Wang, H. Doddapaneni, C. L. Kovar, W. J. Salerno, A. Yoder, S. Richards, J. Rogers, J. R. Lupski, D. M. Muzny, R. A. Gibbs
O57 Development of PacBio long range capture for detection of pathogenic structural variants
Q. Meng, M. Bainbridge, M. Wang, H. Doddapaneni, Y. Han, D. Muzny, R. Gibbs
O58 Rhesus macaques exhibit more non-synonymous variation but greater impact of purifying selection than humans
R. A. Harris, M. Raveenedran, C. Xue, M. Dahdouli, L. Cox, G. Fan, B. Ferguson, J. Hovarth, Z. Johnson, S. Kanthaswamy, M. Kubisch, M. Platt, D. Smith, E. Vallender, R. Wiseman, X. Liu, J. Below, D. Muzny, R. Gibbs, F. Yu, J. Rogers
O59 Assessing RNA structure disruption induced by single-nucleotide variation
J. Lin, Y. Zhang, Z. Ouyang
P1 A meta-analysis of genome-wide association studies of mitochondrial dna copy number
A. Moore, Z. Wang, J. Hofmann, M. Purdue, R. Stolzenberg-Solomon, S. Weinstein, D. Albanes, C.-S. Liu, W.-L. Cheng, T.-T. Lin, Q. Lan, N. Rothman, S. Berndt
P2 Missense polymorphic genetic combinations underlying down syndrome susceptibility
E. S. Chen
P4 The evaluation of alteration of ELAM-1 expression in the endometriosis patients
H. Bahrami, A. Khoshzaban, S. Heidari Keshal
P5 Obesity and the incidence of apolipoprotein E polymorphisms in an assorted population from Saudi Arabia population
K. K. R. Alharbi
P6 Genome-associated personalized antithrombotical therapy for patients with high risk of thrombosis and bleeding
M. Zhalbinova, A. Akilzhanova, S. Rakhimova, M. Bekbosynova, S. Myrzakhmetova
P7 Frequency of Xmn1 polymorphism among sickle cell carrier cases in UAE population
M. Matar
P8 Differentiating inflammatory bowel diseases by using genomic data: dimension of the problem and network organization
N. Mili, R. Molinari, Y. Ma, S. Guerrier
P9 Vulnerability of genetic variants to the risk of autism among Saudi children
N. Elhawary, M. Tayeb, N. Bogari, N. Qotb
P10 Chromatin profiles from ex vivo purified dopaminergic neurons establish a promising model to support studies of neurological function and dysfunction
S. A. McClymont, P. W. Hook, L. A. Goff, A. McCallion
P11 Utilization of a sensitized chemical mutagenesis screen to identify genetic modifiers of retinal dysplasia in homozygous Nr2e3rd7 mice
Y. Kong, J. R. Charette, W. L. Hicks, J. K. Naggert, L. Zhao, P. M. Nishina
P12 Ion torrent next generation sequencing of recessive polycystic kidney disease in Saudi patients
B. M. Edrees, M. Athar, F. A. Al-Allaf, M. M. Taher, W. Khan, A. Bouazzaoui, N. A. Harbi, R. Safar, H. Al-Edressi, A. Anazi, N. Altayeb, M. A. Ahmed, K. Alansary, Z. Abduljaleel
P13 Digital expression profiling of Purkinje neurons and dendrites in different subcellular compartments
A. Kratz, P. Beguin, S. Poulain, M. Kaneko, C. Takahiko, A. Matsunaga, S. Kato, A. M. Suzuki, N. Bertin, T. Lassmann, R. Vigot, P. Carninci, C. Plessy, T. Launey
P14 The evolution of imperfection and imperfection of evolution: the functional and functionless fractions of the human genome
D. Graur
P16 Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients
J. Friis-Nielsen, J. M. Izarzugaza, S. Brunak
P18 Discovery of active gene modules which are densely conserved across multiple cancer types reveal their prognostic power and mutually exclusive mutation patterns
B. S. Soibam
P19 Whole exome sequencing of dysplastic leukoplakia tissue indicates sequential accumulation of somatic mutations from oral precancer to cancer
D. Das, N. Biswas, S. Das, S. Sarkar, A. Maitra, C. Panda, P. Majumder
P21 Epigenetic mechanisms of carcinogensis by hereditary breast cancer genes
J. J. Gruber, N. Jaeger, M. Snyder
P22 RNA direct: a novel RNA enrichment strategy applied to transcripts associated with solid tumors
K. Patel, S. Bowman, T. Davis, D. Kraushaar, A. Emerman, S. Russello, N. Henig, C. Hendrickson
P23 RNA sequencing identifies gene mutations for neuroblastoma
K. Zhang
P24 Participation of SFRP1 in the modulation of TMPRSS2-ERG fusion gene in prostate cancer cell lines
M. Rodriguez-Dorantes, C. D. Cruz-Hernandez, C. D. P. Garcia-Tobilla, S. Solorzano-Rosales
P25 Targeted Methylation Sequencing of Prostate Cancer
N. Jäger, J. Chen, R. Haile, M. Hitchins, J. D. Brooks, M. Snyder
P26 Mutant TPMT alleles in children with acute lymphoblastic leukemia from México City and Yucatán, Mexico
S. Jiménez-Morales, M. Ramírez, J. Nuñez, V. Bekker, Y. Leal, E. Jiménez, A. Medina, A. Hidalgo, J. Mejía
P28 Genetic modifiers of Alström syndrome
J. Naggert, G. B. Collin, K. DeMauro, R. Hanusek, P. M. Nishina
P31 Association of genomic variants with the occurrence of angiotensin-converting-enzyme inhibitor (ACEI)-induced coughing among Filipinos
E. M. Cutiongco De La Paz, R. Sy, J. Nevado, P. Reganit, L. Santos, J. D. Magno, F. E. Punzalan , D. Ona , E. Llanes, R. L. Santos-Cortes , R. Tiongco, J. Aherrera, L. Abrahan, P. Pagauitan-Alan; Philippine Cardiogenomics Study Group
P32 The use of “humanized” mouse models to validate disease association of a de novo GARS variant and to test a novel gene therapy strategy for Charcot-Marie-Tooth disease type 2D
K. H. Morelli, J. S. Domire, N. Pyne, S. Harper, R. Burgess
P34 Molecular regulation of chondrogenic human induced pluripotent stem cells
M. A. Gari, A. Dallol, H. Alsehli, A. Gari, M. Gari, A. Abuzenadah
P35 Molecular profiling of hematologic malignancies: implementation of a variant assessment algorithm for next generation sequencing data analysis and clinical reporting
M. Thomas, M. Sukhai, S. Garg, M. Misyura, T. Zhang, A. Schuh, T. Stockley, S. Kamel-Reid
P36 Accessing genomic evidence for clinical variants at NCBI
S. Sherry, C. Xiao, D. Slotta, K. Rodarmer, M. Feolo, M. Kimelman, G. Godynskiy, C. O’Sullivan, E. Yaschenko
P37 NGS-SWIFT: a cloud-based variant analysis framework using control-accessed sequencing data from DBGAP/SRA
C. Xiao, E. Yaschenko, S. Sherry
P38 Computational assessment of drug induced hepatotoxicity through gene expression profiling
C. Rangel-Escareño, H. Rueda-Zarate
P40 Flowr: robust and efficient pipelines using a simple language-agnostic approach;ultraseq; fast modular pipeline for somatic variation calling using flowr
S. Seth, S. Amin, X. Song, X. Mao, H. Sun, R. G. Verhaak, A. Futreal, J. Zhang
P41 Applying “Big data” technologies to the rapid analysis of heterogenous large cohort data
S. J. Whiite, T. Chiang, A. English, J. Farek, Z. Kahn, W. Salerno, N. Veeraraghavan, E. Boerwinkle, R. Gibbs
P42 FANTOM5 web resource for the large-scale genome-wide transcription start site activity profiles of wide-range of mammalian cells
T. Kasukawa, M. Lizio, J. Harshbarger, S. Hisashi, J. Severin, A. Imad, S. Sahin, T. C. Freeman, K. Baillie, A. Sandelin, P. Carninci, A. R. R. Forrest, H. Kawaji, The FANTOM Consortium
P43 Rapid and scalable typing of structural variants for disease cohorts
W. Salerno, A. English, S. N. Shekar, A. Mangubat, J. Bruestle, E. Boerwinkle, R. A. Gibbs
P44 Polymorphism of glutathione S-transferases and sulphotransferases genes in an Arab population
A. H. Salem, M. Ali, A. Ibrahim, M. Ibrahim
P46 Genetic divergence of CYP3A5*3 pharmacogenomic marker for native and admixed Mexican populations
J. C. Fernandez-Lopez, V. Bonifaz-Peña, C. Rangel-Escareño, A. Hidalgo-Miranda, A. V. Contreras
P47 Whole exome sequence meta-analysis of 13 white blood cell, red blood cell, and platelet traits
L. Polfus, CHARGE and NHLBI Exome Sequence Project Working Groups
P48 Association of adipoq gene with type 2 diabetes and related phenotypes in african american men and women: The jackson heart study
S. Davis, R. Xu, S. Gebeab, P Riestra, A Gaye, R. Khan, J. Wilson, A. Bidulescu
P49 Common variants in casr gene are associated with serum calcium levels in koreans
S. H. Jung, N. Vinayagamoorthy, S. H. Yim, Y. J. Chung
P50 Inference of multiple-wave population admixture by modeling decay of linkage disequilibrium with multiple exponential functions
Y. Zhou, S. Xu
P51 A Bayesian framework for generalized linear mixed models in genome-wide association studies
X. Wang, V. Philip, G. Carter
P52 Targeted sequencing approach for the identification of the genetic causes of hereditary hearing impairment
A. A. Abuzenadah, M. Gari, R. Turki, A. Dallol
P53 Identification of enhancer sequences by ATAC-seq open chromatin profiling
A. Uyar, A. Kaygun, S. Zaman, E. Marquez, J. George, D. Ucar
P54 Direct enrichment for the rapid preparation of targeted NGS libraries
C. L. Hendrickson, A. Emerman, D. Kraushaar, S. Bowman, N. Henig, T. Davis, S. Russello, K. Patel
P56 Performance of the Agilent D5000 and High Sensitivity D5000 ScreenTape assays for the Agilent 4200 Tapestation System
R. Nitsche, L. Prieto-Lafuente
P57 ClinVar: a multi-source archive for variant interpretation
M. Landrum, J. Lee, W. Rubinstein, D. Maglott
P59 Association of functional variants and protein physical interactions of human MUTY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome
Z. Abduljaleel, W. Khan, F. A. Al-Allaf, M. Athar , M. M. Taher, N. Shahzad
P60 Modification of the microbiom constitution in the gut using chicken IgY antibodies resulted in a reduction of acute graft-versus-host disease after experimental bone marrow transplantation
A. Bouazzaoui, E. Huber, A. Dan, F. A. Al-Allaf, W. Herr, G. Sprotte, J. Köstler, A. Hiergeist, A. Gessner, R. Andreesen, E. Holler
P61 Compound heterozygous mutation in the LDLR gene in Saudi patients suffering severe hypercholesterolemia
F. Al-Allaf, A. Alashwal, Z. Abduljaleel, M. Taher, A. Bouazzaoui, H. Abalkhail, A. Al-Allaf, R. Bamardadh, M. Athar
doi:10.1186/s40246-016-0063-5
PMCID: PMC4896275  PMID: 27294413
9.  Canadian National Breast Screening Study: 2. Breast cancer detection and death rates among women aged 50 to 59 years. 
OBJECTIVE: To evaluate the efficacy of annual mammography over and above annual physical examination of the breasts and the teaching of breast self-examination among women aged 50 to 59 on entry. DESIGN: Individually randomized controlled trial. SETTING: Fifteen urban centres in Canada with expertise in the diagnosis and treatment of breast cancer. PARTICIPANTS: Women with no history of breast cancer and no mammography in the previous 12 months were randomly assigned to undergo either annual mammography and physical examination (MP group) or annual physical examination only (PO group). The 39,405 women enrolled from January 1980 through March 1985 were followed for a mean of 8.3 years. DATA COLLECTION: Derived from the participants by initial and annual self-administered questionnaires, from the screening examinations, from the patients' physicians, from the provincial cancer registries and by record linkage to the Canadian National Mortality Data Base. Expert panels evaluated histologic and death data. MAIN OUTCOME MEASURES: Rates of referral from screening, rates of detection of breast cancer from screening and from community care, nodal status, tumour size and rates of death from all causes and from breast cancer. RESULTS: Over 85% of the women in each group attended the screening sessions after screen 1. The characteristics of the women in the two groups were similar. Compared with the Canadian population the participants were more likely to be married, have fewer children, have more education, be in a professional occupation, smoke less and have been born in North America. The rate of screen-detected breast cancer on first examination was 7.20 per 1000 in the MP group and 3.45 per 1000 in the PO group, more node-positive tumours were found in the MP group than in the PO group. At subsequent screens the detection rates were a little less than half the rates at screen 1. During years 2 through 5 the ratios of observed to expected cases of invasive breast cancer were 1.28 in the MP group and 1.18 in the PO group. Of the women with invasive breast cancer through to 7 years, 217 in the MP group and 184 in the PO group had no node involvement, 66 and 56 had one to three nodes involved, 32 and 34 had four or more nodes involved, and 55 and 46 had an unknown nodal status. There were 38 deaths from breast cancer in the MP group and 39 in the PO group. The ratio of the proportions of death from breast cancer in the MP group compared with those in the UC group was 0.97 (95% confidence interval 0.62 to 1.52). The survival rates were similar in the two groups. Women whose cancer had been detected by mammography alone had the highest survival rate. CONCLUSION: The study was internally valid, and there was no evidence of randomization bias. Screening with yearly mammography in addition to physical examination of the breasts detected considerably more node-negative, small tumours than screening with physical examination alone, but it had no impact on the rate of death from breast cancer up to 7 years' follow-up from entry.
PMCID: PMC1336544  PMID: 1423088
10.  Establishing a follow-up of the Swiss MONICA participants (1984-1993): record linkage with census and mortality data 
BMC Public Health  2010;10:562.
Background
To assess the feasibility and quality of an anonymous linkage of 1) MONICA (MONItoring of trends and determinants in CArdiovscular disease, three waves between 1984 and 1993) data with 2) census and mortality records of the Swiss National Cohort in order to establish a mortality follow-up until 2008. Many countries feature the defect of lacking general population cohorts because they have missed to provide for follow-up information of health surveys.
Methods
Record linkage procedures were used in a multi-step approach. Kaplan-Meier curves from our data were contrasted with the survival probabilities expected from life tables for the general population, age-standardized mortality rates from our data with those derived from official cross-sectional mortality data. Cox regression models were fit to investigate the influence of covariates on survival.
Results
97.8% of the eligible 10,160 participants (25-74y at baseline) could be linked to a census (1990: 9,737; 2000: 8,749), mortality (1,526, 1984-2008) and/or emigration record (320, 1990-2008). Linkage success did not differ by any key study characteristic. Results of survival analyses were robust to linkage step or certainty of a correct link. Loss to follow-up between 1990 and 2000 amounted to 4.7%. MONICA participants had lower mortality than the general population, but similar mortality patterns, (e.g. variation by educational level, marital status or region).
Conclusions
Using anonymized census and death records allowed an almost complete mortality follow-up of MONICA study participants of up to 25 years. Lower mortality compared to the general population was in line with a presumable ‚healthy participant' selection in the original MONICA study. Apart from that, the derived data set reproduced known mortality patterns and showed only negligible potential for selection bias introduced by the linkage process. Anonymous record linkage was feasible and provided robust results. It can thus provide valuable information, when no cohort study is available.
doi:10.1186/1471-2458-10-562
PMCID: PMC2955001  PMID: 20858236
11.  Educational inequalities in mortality and associated risk factors: German- versus French-speaking Switzerland 
BMC Public Health  2010;10:567.
Background
Between the French- and German-speaking areas of Switzerland, there are distinct differences in mortality, similar to those between Germany and France. Assessing corresponding inequalities may elucidate variations in mortality and risk factors, thereby uncovering public health potential. Our aim was to analyze educational inequalities in all-cause and cause-specific mortality in the two Swiss regions and to compare this with inequalities in behavioural risk factors and self-rated health.
Methods
The Swiss National Cohort, a longitudinal census-based record linkage study, provided mortality and survival time data (3.5 million individuals, 40-79 years, 261,314 deaths, 1990-2000). The Swiss Health Survey 1992/93 provided cross-sectional data on risk factors. Inequalities were calculated as percentage of change in mortality rate (survival time, hazard ratio) or risk factor prevalence (odds ratio) per year of additional education using multivariable Cox and logistic regression.
Results
Significant inequalities in mortality were found for all causes of death in men and for most causes in women. Inequalities were largest in men for causes related to smoking and alcohol use and in women for circulatory diseases. Gradients in all-cause mortality were more pronounced in younger and middle-aged men, especially in German-speaking Switzerland. Mortality inequalities tended to be larger in German-speaking Switzerland whereas inequalities in associated risk factors were generally more pronounced in French-speaking Switzerland.
Conclusions
With respect to inequalities in mortality and associated risk factors, we found characteristic differences between German- and French-speaking Switzerland, some of which followed gradients described in Europe. These differences only partially reflected inequalities in associated risk factors.
doi:10.1186/1471-2458-10-567
PMCID: PMC2955004  PMID: 20858293
12.  Identifying Risk Factors for Disparities in Breast Cancer Mortality among African-American and Hispanic Women 
Background
This study evaluated the risk factors associated with racial disparities in female breast cancer mortality for African-American and Hispanic women at the census tract level in Texas from 1995 to 2005.
Methods
Data on female breast cancer cases were obtained from the Texas Cancer Registry. Socioeconomic and demographic data were collected from Census 2000. Network distance and driving times to mammography facilities were estimated using Geographic Information System techniques. Demographic, poverty and spatial accessibility factors were constructed using principal component analysis. Logistic regression models were developed to predict the census tracts with significant racial disparities in breast cancer mortality based on racial disparities in late-stage diagnosis and structured factors from the principal component analysis.
Results
Late-stage diagnosis, poverty factors, and demographic factors were found to be significant predictors of a census tract showing significant racial disparities in breast cancer mortality. Census tracts with higher poverty status were more likely to display significant racial disparities in breast cancer mortality for both African Americans (odds ratio [OR], 2.43; 95% confidence interval [CI], 1.95–3.04) and Hispanics (OR, 5.30; 95% CI, 4.26–6.59). Spatial accessibility was not a consistent predictor of racial disparities in breast cancer mortality for African-American and Hispanic women.
Conclusion
Physical access to mammography facilities does not necessarily reflect a greater utilization of mammogram screening, possibly owing to financial constraints. Therefore, a metric measuring access to health care facilities is needed to capture all aspects of access to preventive care. Despite easier physical access to mammography facilities in metropolitan areas, great resources and efforts should also be devoted to these areas where racial disparities in breast cancer mortality are often found.
doi:10.1016/j.whi.2011.11.007
PMCID: PMC4338013  PMID: 22265181
13.  Occupational mortality of women aged 15-59 years at death in England and Wales. 
STUDY OBJECTIVE--The aim was to analyse occupational mortality differences among women using follow up data from a large nationally representative sample. DESIGN--Occupational information was obtained from the 1971 census records of women in the Longitudinal Study carried out by the Office of Population Censuses and Surveys (OPCS) and related to their subsequent mortality in the period between the 1971 and 1981 censuses. SETTING--In the Longitudinal Study, census, vital statistics, and other OPCS records are linked for a 1% sample of the population of England and Wales. The women studied in this paper were drawn from the 513,071 persons in the 1971 census who were included in the Longitudinal Study and whose entries were traced at the National Health Service Central Register by 1977. PARTICIPANTS--The analysis was based on 77,081 women aged 15-59 years in the Longitudinal Study for whom occupational information was collected in the 1971 census (99% of whom were in paid employment in the week before the census). There were 1553 deaths among these women in the follow up period analysed here. MEASUREMENTS AND MAIN RESULTS--Numbers of deaths in each occupational group at census were compared to those expected on the basis of age specific death rates among all women in the study. "Professional, technical workers, and artists" had significantly low mortality while "Engineering and allied trades workers nec" had significantly high mortality. Among the latter, cancer mortality of electrical production process workers was extremely high. A number of other cause specific associations (which appear to confirm proportionate Decennial Supplement analyses) were suggested by the data; examples include high levels of mortality from ischaemic heart disease among cooks, lung cancer and respiratory disease among charwomen and cleaners, and accidents, poisonings, and violence among several groups of professional and technical workers. CONCLUSIONS--By using prospective follow up from the census, occupational differences in mortality can be identified among women in paid employment. As follow up of this study continues, numbers of deaths available for analysis will increase, allowing increasingly comprehensive analyses to be undertaken.
PMCID: PMC1060728  PMID: 2072070
14.  Record linked retrospective cohort study of 4.6 million people exploring ethnic variations in disease: myocardial infarction in South Asians 
BMC Public Health  2007;7:142.
Background
Law and policy in several countries require health services to demonstrate that they are promoting racial/ethnic equality. However, suitable and accurate data are usually not available. We demonstrated, using acute myocardial infarction, that linkage techniques can be ethical and potentially useful for this purpose.
Methods
The linkage was based on probability matching. Encryption of a unique national health identifier (the Community Health Index (CHI)) ensured that information about health status and census-based ethnicity could not be ascribed to an identified individual. We linked information on individual ethnic group from the 2001 Census to Scottish hospital discharge and mortality data.
Results
Overall, 94% of the 4.9 million census records were matched to a CHI record with an estimated false positive rate of less than 0.1 %, with 84.9 – 87.6% of South Asians being successfully linked. Between April 2001 and December 2003 there were 126 first episodes of acute myocardial infarction (AMI) among South Asians and 30,978 among non-South Asians. The incidence rate ratio was 1.45 (95% CI 1.17, 1.78) for South Asian compared to non-South Asian men and 1.80 (95% CI 1.31, 2.48) for South Asian women. After adjustment for age, sex and any previous admission for diabetes the hazard ratio for death following AMI was 0.59 (95% CI 0.43, 0.81), reflecting better survival among South Asians.
Conclusion
The technique met ethical, professional and legal concerns about the linkage of census and health data and is transferable internationally wherever the census (or population register) contains ethnic group or race data. The outcome is a retrospective cohort study. Our results point to increased incidence rather than increased case fatality in explaining high CHD mortality rate. The findings open up new methods for researchers and health planners.
doi:10.1186/1471-2458-7-142
PMCID: PMC1965474  PMID: 17615055
15.  A systematic review of interventions to increase breast and cervical cancer screening uptake among Asian women 
BMC Public Health  2012;12:413.
Background
The Asian population is one of the fastest growing ethnic minority groups in western countries. However, cancer screening uptake is consistently lower in this group than in the native-born populations. As a first step towards developing an effective cancer screening intervention program targeting Asian women, we conducted a comprehensive systematic review, without geographic, language or date limitations, to update current knowledge on the effectiveness of existing intervention strategies to enhance breast and cervical screening uptake in Asian women.
Methods
This study systematically reviewed studies published as of January 2010 to synthesize knowledge about effectiveness of cancer screening interventions targeting Asian women. Fifteen multidisciplinary peer-reviewed and grey literature databases were searched to identify relevant studies.
Results
The results of our systematic review were reported in accordance with the PRISMA Statement. Of 37 selected intervention studies, only 18 studies included valid outcome measures (i.e. self-reported or recorded receipt of mammograms or Pap smear). 11 of the 18 intervention studies with valid outcome measures used multiple intervention strategies to target individuals in a specific Asian ethnic group. This observed pattern of intervention design supports the hypothesis that employing a combination of multiple strategies is more likely to be successful than single interventions. The effectiveness of community-based or workplace-based group education programs increases when additional supports, such as assistance in scheduling/attending screening and mobile screening services are provided. Combining cultural awareness training for health care professionals with outreach workers who can help healthcare professionals overcome language and cultural barriers is likely to improve cancer screening uptake. Media campaigns and mailed culturally sensitive print materials alone may be ineffective in increasing screening uptake. Intervention effectiveness appears to vary with ethnic population, methods of program delivery, and study setting.
Conclusions
Despite some limitations, our review has demonstrated that the effectiveness of existing interventions to promote breast and cervical cancer screening uptake in Asian women may hinge on a variety of factors, such as type of intervention and study population characteristics. While some studies demonstrated the effectiveness of certain intervention programs, the cost effectiveness and long-term sustainability of these programs remain questionable. When adopting an intervention program, it is important to consider the impacts of social-and cultural factors specific to the Asian population on cancer screening uptake. Future research is needed to develop new interventions and tools, and adopt vigorous study design and evaluation methodologies to increase cancer screening among Asian women to promote population health and health equity.
doi:10.1186/1471-2458-12-413
PMCID: PMC3488494  PMID: 22676147
16.  Canadian National Breast Screening Study: 1. Breast cancer detection and death rates among women aged 40 to 49 years. 
OBJECTIVES: To evaluate the efficacy of the combination of annual screening with mammography, physical examination of the breasts and the teaching of breast self-examination in reducing the rate of death from breast cancer among women aged 40 to 49 years on entry. DESIGN: Individually randomized controlled trial. SETTING: Fifteen urban centres in Canada with expertise in the diagnosis and treatment of breast cancer. PARTICIPANTS: Women with no history of breast cancer and no mammography in the previous 12 months were randomly assigned to undergo either annual mammography and physical examination (MP group) or usual care after an initial physical examination (UC group). The 50,430 women enrolled from January 1980 through March 1985 were followed for a mean of 8.5 years. DATA COLLECTION: Derived from the participants by initial and annual self-administered questionnaires, from the screening examinations, from the patients' physicians, from the provincial cancer registries and by record linkage to the Canadian National Mortality Data Base. Expert panels evaluated histologic and death data. MAIN OUTCOME MEASURES: Rates of referral from screening, rates of detection of breast cancer from screening and from community care, nodal status, tumour size, and rates of death from all causes and from breast cancer. RESULTS: Over 90% of the women in each group attended the screening sessions or returned the annual questionnaires, or both, over years 2 to 5. The characteristics of the women in the two groups were similar. Compared with the Canadian population, the participants were more likely to be married, have fewer children, have more education, be in a professional occupation, smoke less and have been born in North America. The rate of screen-detected breast cancer on first examination was 3.89 per 1000 in the MP group and 2.46 per 1000 in the UC group; more node-positive tumours were found in the MP group than in the UC group. During years 2 through 5 the ratios of observed to expected cases of invasive breast cancer were 1.26 in the MP group and 1.02 in the UC group. Of the women with invasive breast cancer through to 7 years, 191 and 157 women in the MP and UC groups respectively had no node involvement, 55 and 43 had one to three nodes involved, 47 and 23 had four or more nodes involved, and 38 and 49 had an unknown nodal status. There were 38 deaths from breast cancer in the MP group and 28 in the UC group. The ratio of the proportions of death from breast cancer in the MP group compared with those in the UC group was 1.36 (95% confidence interval 0.84 to 2.21). The survival rates were similar in the two groups. The highest survival rate occurred among women whose cancer had been detected by mammography alone. CONCLUSION: The study was internally valid, and there was no evidence of randomization bias. Screening with yearly mammography and physical examination of the breasts detected considerably more node-negative, small tumours than usual care, but it had no impact on the rate of death from breast cancer up to 7 years' follow-up from entry.
PMCID: PMC1336543  PMID: 1423087
17.  Cervical cancer screening of underserved women in the United States: results from the National Breast and Cervical Cancer Early Detection Program, 1997–2012 
Cancer Causes & Control  2015;26(5):671-686.
Objective
The National Breast and Cervical Cancer Early Detection Program (NBCCEDP) provides breast and cervical cancer screens to low-income, uninsured, and underinsured women. We describe the number and proportion of women eligible for cervical cancer screening services and the proportion of eligible women screened over the period 1997–2012.
Methods
Low-income, uninsured, and underinsured women aged 18–64 years who have not had a hysterectomy are eligible for cervical cancer screening through the NBCCEDP. We estimated the number of low-income, uninsured women using data from the US Census Bureau. We adjusted our estimates for hysterectomy status using the National Health Interview Survey and the Behavioral Risk Factor Surveillance System. We used data from the NBCCEDP to describe the number of women receiving NBCCEDP-funded screening and calculated the proportion of eligible women who received screening through the NBCCEDP at the national level (by age group, race/ethnicity) and at the state level by age group. We used the Medical Expenditure Panel Survey to estimate the proportion of NBCCEDP-eligible women who were screened outside the NBCCEDP and the proportion that are not screened.
Results
We estimate that in 2010–2012, 705,970 women aged 18–64 years, 6.5 % (705,970 of 9.8 million) of the eligible population, received NBCCEDP-funded Pap tests. We estimate that 60.2 % of eligible women aged 18–64 years were screened outside the NBCCEDP and 33.3 % were not screened. The NBCCEDP provided 623,603 screens to women aged 40–64 years, an estimated 16.5 % of the eligible population, and 83,660 screens to women aged 18–39 years, representing an estimated 1.2 % of the eligible population. The estimated proportions of eligible women screened in each state ranged from 1.5 to 32.7 % and 5 % to 73.2 % among the 18–64 and 40–64 years age groups, respectively. Changes in the proportion of eligible women screened over the study period were nonsignificant.
Conclusions
Although the program provided cervical screening to over 700,000 women between 2010 and 2012, it served a small percent of those eligible. The proportion of women screened varied substantially across age groups, racial/ethnic groups, and states. Many low-income, uninsured women are not being screened.
doi:10.1007/s10552-015-0524-5
PMCID: PMC4429146  PMID: 25783455
Cervical cancer; Papanicolaou test utilization; Screening proportions; Medically underserved; National Breast and Cervical Cancer Early Detection Program
18.  Using mortality follow-up of surveys to estimate social inequalities in healthy life years 
Background
The estimation of healthy life years (HLY) by socio-economic status (SES) requires two types of data: the prevalence of activity limitation by SES generally extracted from surveys and mortality rates by SES generally derived from a linkage between the SES information in population databases (census, register) and mortality records. In some situations, no population-wide databases are available to produce mortality rates by SES, and therefore some alternatives must be explored. This paper assesses the validity of calculating HLY by SES using mortality rates derived from a linkage between surveys and mortality records.
Methods
Two surveys were chosen to explore the validity of the proposed approach: The Belgian Health Interview Survey (HIS) and the Belgian Survey on Income and Living Conditions (SILC). The mortality follow-up of these surveys were used to calculate HLY by educational level at age 25. These HLY were compared with HLY estimates calculated using the mortality follow-up of the 2001 census. The validity of this approach was evaluated against two criteria. First, the HLY calculated using the census and those calculated using the surveys must not be significantly different. Second, survey-based HLY must show significant social inequalities since such inequalities have been consistently reported with census-based HLY.
Results
Both criteria were met. First, for each educational category, no statistically significant difference was found when comparing census-based and survey-based HLY estimates. For instance, men in the lowest educational category have shown a HLY of 34 years according to the HIS, and while this figure was 35.5 years according to the census, this difference was not statistically significant. Second, the survey-based HLY have shown a significant social gradient. For instance, men in the highest educational category are expected to live 9.5 more HLY than their counterparts in the lowest educational category based on the HIS estimates, compared with 7.3 HLY based on the census estimates.
Conclusions
This article suggests that using the mortality follow-up of a nationally representative cross-sectional survey is a valid approach to monitor social inequalities in HLY in the absence of population-wide data.
doi:10.1186/1478-7954-12-13
PMCID: PMC4030465  PMID: 24855457
Healthy life years; Socioeconomic status; Surveys; Mortality follow-up; Monitoring
19.  Geographic Access to Breast Imaging for U.S. Women 
Background
The breast imaging modalities of mammography, ultrasound, and magnetic resonance imaging (MRI) are widely used for screening, diagnosis, treatment, and surveillance of breast cancer. Geographic access to breast imaging modalities is not known at a national level overall or for population subgroups.
Methods
A retrospective study of 2004-2008 Medicare claims data to identify ZIP codes in which breast imaging occurred, and data were mapped. We estimated travel times to each modality for 215,798 census block groups in the contiguous U.S. Using Census 2010 data, we characterized travel times by socio-demographic factors for 92,788,909 women aged ≥30 years, overall, and by subgroups of age, race/ethnicity, rurality, education, and median income.
Results
Overall, 85% of women had travel times of ≤20 minutes to nearest mammography or ultrasound, and 70% had travel times of ≤20 minutes for MRI with little variation by age. Native American women had median travel times 2-3-fold longer to all three modalities, compared to women of other racial/ethnic groups. For rural women, median travel times to breast imaging were 4-8-fold longer than for urban women. Black and Asian women had shortest median travel times to all three modalities.
Conclusion
Travel times to mammography and ultrasound breast imaging are short for most women, but to breast MRI travel times are notably longer. Native American and rural women are disadvantaged in geographic access based on travel times to breast imaging. This work informs potential interventions to reduce inequities in access and utilization.
doi:10.1016/j.jacr.2014.03.022
PMCID: PMC4156905  PMID: 24889479
Travel time; access; mammography; breast imaging; disparities
20.  Methods and feasibility of collecting occupational data for a large population-based cohort study in the United States: the reasons for geographic and racial differences in stroke study 
BMC Public Health  2014;14:142.
Background
Coronary heart disease and stroke are major contributors to preventable mortality. Evidence links work conditions to these diseases; however, occupational data are perceived to be difficult to collect for large population-based cohorts. We report methodological details and the feasibility of conducting an occupational ancillary study for a large U.S. prospective cohort being followed longitudinally for cardiovascular disease and stroke.
Methods
Current and historical occupational information were collected from active participants of the REasons for Geographic And Racial Differences in Stroke (REGARDS) Study. A survey was designed to gather quality occupational data among this national cohort of black and white men and women aged 45 years and older (enrolled 2003–2007). Trained staff conducted Computer-Assisted Telephone Interviews (CATI). After a brief pilot period, interviewers received additional training in the collection of narrative industry and occupation data before administering the survey to remaining cohort members. Trained coders used a computer-assisted coding system to assign U.S. Census codes for industry and occupation. All data were double coded; discrepant codes were independently resolved.
Results
Over a 2-year period, 17,648 participants provided consent and completed the occupational survey (87% response rate). A total of 20,427 jobs were assigned Census codes. Inter-rater reliability was 80% for industry and 74% for occupation. Less than 0.5% of the industry and occupation data were uncodable, compared with 12% during the pilot period. Concordance between the current and longest-held jobs was moderately high. The median time to collect employment status plus narrative and descriptive job information by CATI was 1.6 to 2.3 minutes per job. Median time to assign Census codes was 1.3 minutes per rater.
Conclusions
The feasibility of conducting high-quality occupational data collection and coding for a large heterogeneous population-based sample was demonstrated. We found that training for interview staff was important in ensuring that narrative responses for industry and occupation were adequately specified for coding. Estimates of survey administration time and coding from digital records provide an objective basis for planning future studies. The social and environmental conditions of work are important understudied risk factors that can be feasibly integrated into large population-based health studies.
doi:10.1186/1471-2458-14-142
PMCID: PMC3933294  PMID: 24512119
Occupations; Occupational exposure; Stressful events; Social class; Cohort studies; Epidemiologic methods; Data collection; Stroke; Cardiovascular disease
21.  Does the HPV vaccination programme have implications for cervical screening programmes in the UK?☆ 
Vaccine  2014;32(16):1828-1833.
Highlights
•Women who did not take up the HPV vaccination were less likely to attend for cervical screening.•HPV vaccinated women who attended cervical screening had the lowest proportion of cytological abnormalities detected.•Social deprivation was the main factor-affecting uptake of both HPV vaccination and cervical screening.
In the UK, a national HPV immunisation programme was implemented in 2008 for girls aged 12–13 years. In addition a catch-up programme was implemented for older girls up to 18 years of age from 2009 to 2011, with an uptake rate of 49.4%. Information about future uptake of cervical screening according to vaccination statistics is important in order to understand the impact of the vaccination programme and implications for a national cervical screening programme. We analysed data on a cohort of women who had been offered the HPV vaccine in the catch-up programme and were invited for cervical screening between 2010 and 2012 in Wales (n = 30,882), in a record-linked database study, to describe the cervical screening uptake and clinical outcome according to HPV vaccination status.
In our cohort, 48.5% (n = 14,966) women had had HPV vaccination and 45.9% (n = 14,164) women attended for cervical screening. Women who were unvaccinated were less likely to attend cervical screening (adjusted OR 0.58; 95% CI (0.55, 0.61)). Of those who attended for screening, 13.9% of vaccinated women had abnormal cytology reported compared to 16.7% of women who were unvaccinated. Women who lived in areas with high levels of social deprivation were less likely to be vaccinated (Quintile 5 OR 0.48 95% CI (0.45, 0.52)) or attend cervical screening (Quintile 5 OR 0.70; 95% CI (0.65, 0.75)) compared to those who lived in the least deprived areas.
These data highlight the need for new strategies to address inequalities in cervical screening uptake and can inform further mathematical modelling work to clarify the impact of the HPV vaccination programme on future cervical cancer incidence.
doi:10.1016/j.vaccine.2014.01.087
PMCID: PMC3991313  PMID: 24530938
22.  Linking of Primary Care Records to Census Data to Study the Association between Socioeconomic Status and Cancer Incidence in Southern Europe: A Nation-Wide Ecological Study 
PLoS ONE  2014;9(10):e109706.
Background
Area-based measures of economic deprivation are seldom applied to large medical records databases to establish population-scale associations between deprivation and disease.
Objective
To study the association between deprivation and incidence of common cancer types in a Southern European region.
Methods
Retrospective ecological study using the SIDIAP (Information System for the Development of Research in Primary Care) database of longitudinal electronic medical records for a representative population of Catalonia (Spain) and the MEDEA index based on urban socioeconomic indicators in the Spanish census. Study outcomes were incident cervical, breast, colorectal, prostate, and lung cancer in 2009–2012. The completeness of SIDIAP cancer recording was evaluated through linkage of a geographic data subset to a hospital cancer registry. Associations between MEDEA quintiles and cancer incidence was evaluated using zero-inflated Poisson regression adjusted for sex, age, smoking, alcoholism, obesity, hypertension, and diabetes.
Results
SIDIAP sensitivity was 63% to 92% for the five cancers studied. There was direct association between deprivation and lung, colorectal, and cervical cancer: incidence rate ratios (IRR) 1.82 [1.64–2.01], IRR 1.60 [1.34–1.90], IRR 1.22 [1.07–1.38], respectively, comparing the most deprived to most affluent areas. In wealthy areas, prostate and breast cancers were more common: IRR 0.92 [0.80–1.00], IRR 0.91 [0.78–1.06]. Adjustment for confounders attenuated the association with lung cancer risk (fully adjusted IRR 1.16 [1.08–1.25]), reversed the direction of the association with colorectal cancer (IRR 0.90 [0.84–0.95]), and did not modify the associations with cervical (IRR 1.27 [1.11–1.45]), prostate (0.74 [0.69–0.80]), and breast (0.76 [0.71–0.81]) cancer.
Conclusions
Deprivation is associated differently with the occurrence of various cancer types. These results provide evidence that MEDEA is a useful, area-based deprivation index for analyses of the SIDIAP database. This information will be useful to improve screening programs, cancer prevention and management strategies, to reach patients more effectively, particularly in deprived urban areas.
doi:10.1371/journal.pone.0109706
PMCID: PMC4203762  PMID: 25329578
23.  Unemployment and suicide. Evidence for a causal association? 
Objectives: To determine the independent associations of labour force status and socioeconomic position with death by suicide.
Design: Cohort study assembled by anonymous and probabilistic record linkage of census and mortality records.
Participants: 2.04 million respondents to the New Zealand 1991 census aged 18–64 years.
Main outcome measure: Suicide in the three years after census night.
Results: The age adjusted odds ratios (95% confidence intervals) of death by suicide among 25 to 64 year olds who were unemployed compared with employed were 2.46 (1.10 to 5.49) for women and 2.63 (1.87 to 3.70) for men. Similarly increased odds ratios were observed for the non-active labour force compared with the employed. Strong age only adjusted associations of suicide death with the socioeconomic factors of education (men only), car access, and household income were observed. Compared with those who were married on census night, the non-married had odds ratios of suicide of 1.81 (1.22 to 2.69) for women and 2.08 (1.66 to 2.61) for men. In a multivariable model the association of socioeconomic factors with suicide reduced to the null. However, marital status and labour force status remained strong predictors of suicide death. Unemployment was also strongly associated with suicide death among 18–24 year old men. Sensitivity analyses suggested that confounding by mental illness might explain about half, but not all, of the association between unemployment and suicide.
Conclusions: Being unemployed was associated with a twofold to threefold increased relative risk of death by suicide, compared with being employed. About half of this association might be attributable to confounding by mental illness.
doi:10.1136/jech.57.8.594
PMCID: PMC1732539  PMID: 12883065
24.  The effects of a UK review of Breast Cancer Screening on Uptake: An observational before/after study 
Journal of Medical Screening  2013;20(2):86-90.
Objectives
To measure whether uptake of breast cancer screening was affected by the publication of the Marmot Review and associated press coverage.
Setting
Eight NHS breast screening centres in the West Midlands of the UK.
Methods
Uptake of breast cancer screening invitations was compared in the week before and after the Marmot review publication. All 12,023 women invited for screening between 23 October 2012 and 5 November 2012 were included. A mixed effects model of the predictors of screening uptake (on date invited, or within 21 days) was created. Predictors considered for inclusion were whether the allocated screening appointment was before or after publication of the review, population factors (age, index of multiple deprivation income domain by quintile, previous attendance), and interaction terms.
Results
Uptake decreased after publication of the review from 65% to 62% (OR = 0.87 95%CI = 0.80–0.94), but a similar decrease was seen for the same dates on the previous year (OR = 0.85 95%CI = 0.78–0.93). Odds of attending screening were lower for women in the most deprived (uptake = 49%, OR = 0.54, 95%CI = 0.46–0.62) in comparison with the least deprived quintile (uptake = 71%). Odds of attendance also increased if the woman had ever previously attended (OR 3.9 95% CI 3.5–4.4), and decreased with each year of increasing age (OR 0.96 95% CI 0.96–0.97). There were no interactions between any of the other predictors and whether the appointment was before or after publication of the Marmot review.
Conclusion
No change in uptake of breast cancer screening above normal seasonal variation was detected after publication of the Marmot review.
doi:10.1177/0969141313497198
PMCID: PMC3807969  PMID: 24009089
25.  Cervical and breast cancer screening uptake among women with serious mental illness: a data linkage study 
BMC Cancer  2016;16:819.
Background
Breast and cancer screening uptake has been found to be lower among women with serious mental illness (SMI). This study aims to corroborate these findings in the UK and to identify variation in screening uptake by illness/treatment factors, and primary care consultation frequency.
Methods
Linked population-based primary and secondary care data from the London borough of Lambeth (UK) were used to compare breast and cervical screening receipt among linked eligible SMI patients (n = 625 and n = 1393), to those without SMI known only to primary care (n = 106,554 and n = 25,385) using logistic regression models adjusted first for socio-demographic factors and second, additionally for primary care consultation frequency.
Results
Eligible SMI patients were less likely to have received breast (adjusted odds ratio (OR) 0.69, 95 % confidence interval (CI), 0.57 - 0.84, p < 0.001) or cervical screening (adjusted OR 0.72, CI: 0.60 - 0.85, p < 0.001). Schizophrenia diagnosis, depot injectable antipsychotic prescription, and illness severity and risk were associated with the lowest odds of uptake of breast (adjusted ORs 0.46 to 0.59, all p < 0.001) and cervical screening (adjusted ORs 0.48 - 0.65, all p < 0.001). Adjustments for consultation frequency further reduced effect sizes for all subgroups of SMI patient, in particular for cervical screening.
Conclusions
Women with SMI are less likely to receive breast and cervical cancer screening than comparable women without SMI. Higher primary care consultation rates among SMI patients is likely a mediating factor between SMI status and uptake, particularly for cervical screening - a service organised in primary care. To tackle health disparities linked to SMI, efforts at increasing screening uptake are key and should be targeted at women with other markers of illness severity or risk, beyond SMI status alone.
doi:10.1186/s12885-016-2842-8
PMCID: PMC5073417  PMID: 27769213
Cancer screening; Breast cancer; Cervical cancer; Mammography; Psychoses; Serious mental illness; Data linkage

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