Genomic copy number alterations (CNA) are common in breast cancer. Identifying characteristic CNAs associated with specific breast cancer subtypes is a critical step in defining potential mechanisms of disease initiation and progression. We used genome-wide array comparative genomic hybridization (aCGH) to identify distinctive CNAs in breast cancer subtypes from 259 young (diagnosed with breast cancer at <55 years) African American (AA) and Caucasian American (CA) women originally enrolled in a larger population-based study. We compared the average frequency of CNAs across the whole genome for each breast tumor subtype and found that estrogen receptor (ER)-negative tumors had a higher average frequency of genome-wide gain (p<0.0001) and loss (p=0.02) compared to ER-positive tumors. Triple negative (TN) tumors had a higher average frequency of genome-wide gain (p<0.0001) and loss (p=0.003) than non-TN tumors. No significant difference in CNA frequency was observed between HER2-positive and negative tumors. We also identified previously unreported recurrent CNAs (frequency >40%) for TN breast tumors at 10q, 11p, 11q, 16q, 20p and 20q. In addition, we report CNAs that differ in frequency between TN breast tumors of AA and CA women. This is of particular relevance because TN breast cancer is associated with higher mortality and young AA women have higher rates of TN breast tumors compared to CA women. These data support the possibility that higher overall frequency of genomic alteration events as well as specific focal CNAs in TN breast tumors might contribute in part to the poor breast cancer prognosis for young AA women.

Few population-based studies have addressed the role that family history of colorectal cancer (CRC) plays in clinician decision making or patient health choices. The objective of this study was to evaluate the effect of family history of CRC on clinician practice, patient CRC screening, and patient preventive behavior. We analyzed 2008 Oregon Behavioral Risk Factor Surveillance System data to examine associations between family history of CRC and 1) patient-reported clinician recommendations, 2) perceived risk of developing CRC, 3) adoption of preventive and screening behaviors, and 4) CRC risk factors among 1,795 respondents without CRC. A family history of CRC was positively associated with a higher likelihood of respondents reporting that their clinicians discussed colorectal cancer screening (OR, 4.2; 95% CI, 2.4-7.4) and of respondents having colorectal screening within the recommended time period (OR, 2.2; 95% CI, 1.3-3.9). A family history of CRC was also associated with respondents reporting lifestyle changes to prevent CRC (OR, 2.6; 95% CI, 1.7-4.0). A family history of CRC may prompt clinicians to recommend screening and preventive behavior changes and motivate patients to adopt such strategies.

Objective

Large body size has been associated with decreased risk of breast cancer in premenopausal, but with increased risk in postmenopausal women. Limited information is available about African American women and differences by estrogen- and progesterone-receptor (ERPR) status.

Methods

We analyzed data from the Women's Contraceptive and Reproductive Experiences (CARE) Study among 3,997 white and African American breast cancer case patients diagnosed in 1994-98 and 4,041 control participants aged 35 to 64. We calculated multivariate odds ratios (ORs) as measures of relative risk of breast cancer associated with self-reported body mass index (BMI) at age 18 and 5 years before diagnosis (recent BMI).

Results

Risk tended to decrease with increasing BMI at age 18 in all women (ORBMI≥25 kg/m2 vs <20kg/m2=0.76, 95% CI:0.63–0.90, Ptrend=0.005) and with recent BMI in premenopausal women (ORBMI ≥35 kg/m2 vs <25kg/m2=0.81, 95% CI:0.61–1.06, Ptrend=0.05), unmodified by race. Among postmenopausal white but not African American women, there was an inverse relation between recent BMI and risk. High recent BMI was associated with increased risk of ERPR positive tumors among postmenopausal African American women (ORBMI ≥35 kg/m2 vs <25kg/m2=1.83, 95% CI:1.08–3.09, Ptrend=0.03).

Conclusion

Among women at age 35-64, BMI at age 18 is inversely associated with risk of breast cancer, but association with recent BMI varies by menopause status, race and hormone receptor status.

Impact

Our findings indicate that studies of BMI and breast cancer should consider breast cancer subtypes.

Objective

To examine the extent to which the National Breast and Cervical Cancer Early Detection Program (Program) has helped to meet the mammography screening needs of underserved women.

Methods

Low-income, uninsured women aged 40–64 are eligible for free mammography screening through the Program. We used data from the U.S. Census Bureau to estimate the number of women eligible for services. We obtained the number of women receiving Program-funded mammograms from the Program. We then calculated the percentage of eligible women who received mammograms through the Program.

Results

In 2002–2003, of all U.S. women aged 40–64, approximately 4 million (8.5%) had no health insurance and had a family income below 250% of the federal poverty level, meeting Program eligibility criteria. Of these women, 528,622 (13.2%) received a Program-funded mammogram. Rates varied substantially by race and ethnicity. The percentage of eligible women screened in each state ranged from about 2% to approximately 79%.

Conclusions

Although the Program provided screening services to over a half-million low-income, uninsured women for mammography, it served a small percentage of those eligible. Given that in 2003 more than 2.3 million uninsured, low-income, women aged 40–64 did not receive recommended mammograms from either the Program or other sources, there remains a substantial need for services for this historically underserved population.

The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.