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1.  ‘My funky genetics’: BRCA1/2 mutation carriers’ understanding of genetic inheritance and reproductive merger in the context of new repro-genetic technologies 
Deleterious mutations in the BRCA1/BRCA2 genes elevate lifetime risk of breast and ovarian cancer. Each child of a mutation-positive parent has a 50% chance of inheriting it. Pre-implantation genetic diagnosis (PGD) permits prospective parents to avoid transmitting a BRCA1/2 mutation to a child, introducing predictability into a process historically defined by chance. This investigation explored how BRCA1/2 mutation carriers understand genetic inheritance and consider a child’s inheritance of a BRCA1/2 mutation, given the opportunities that exist to pursue PGD.
39 female and male BRCA1/2 mutation carriers of reproductive age were recruited from urban cancer and reproductive medical centers. Participants completed a standardized educational presentation on PGD and prenatal diagnosis, with pre- and post-test assessments. An interdisciplinary team of qualitative researchers analyzed data using grounded theory techniques.
Participants expressed the belief that reproduction yields children with unique genetic strengths and challenges, including the BRCA1/2 mutation, family traits for which predictive tests do not exist, and hypothetical genetic risks. Participants expressed preference for biologically-related children, yet stated their genetically ‘well’ partner’s lineage would be marred through reproductive merger, requiring the well partner to assume the burden of the BRCA1/2 mutation via their children. Participants expressed diverse views of genetically ‘well’ partners’ participation in family planning and risk management decisions.
Pressure to use reprogenetic technology may grow as genetic susceptibility testing becomes more widely available. Work with individuals and couples across the disease spectrum must be attuned to they ways beliefs about genetic inheritance play into reproductive decision making.
PMCID: PMC4229842  PMID: 22709328
BRCA mutation; pre-implantation genetic diagnosis; human reproduction; couples; genetic inheritance
2.  A Prospective Study of Quality of Life in Patients Undergoing Pelvic Exenteration: Interim Results 
Gynecologic oncology  2012;128(2):191-197.
Little prospective data exist on quality of life (QOL) after pelvic exenteration (PE). This ongoing study prospectively examines the QOL-changes following this radical procedure using a comprehensive battery of psychological instruments.
Since 2005, enrolled patients were interviewed (EORTC QLQ-C30, EORTC QLQ-CR38, EORTC QLQ-BLM30, BFI, BPI-SF, IADL, CES-D, IES-R) preoperatively and at 3, 6, and 12 months after PE for physical/psychological symptoms. Data were examined using repeated measure ANOVA.
Sixteen women (3 anterior, 1 posterior, and 12 total PE’s), with more than one year of follow up, completed all scheduled interviews. Median age was 58 years (28–76). Overall QOL (F=6.3, p<0.02), ability to perform instrumental daily activities (F=6.8, p<0.02), body image (F=11.9, p<0.00) and sexual function (F=8.0, p<0.01) all declined at 3 months but were near baseline by 12 months after PE. Although, overall, physical function followed a similar trend (F=14.8, p<0.00), it did not return to baseline. At the 12-month interview, patients reported increased gastrointestinal symptoms (F=8.9, p<0.01) but significantly less stress-related ideation (F=6.1, p<0.03) compared to baseline. Pain levels did not change significantly during the study period (F=0.4, p<0.74).
Although patients report lingering gastrointestinal symptoms and some persistent decline in physical function after PE, most adjust well, returning to almost baseline functioning within a year. Providers can counsel patients that many, though not all, symptoms in the first 3 months following exenteration are likely to improve as they adapt to their changed health status. These preliminary results await confirmation of a larger analysis.
PMCID: PMC4174356  PMID: 23063761
3.  Development and Preliminary Evaluation of a Training Workshop for the Collection of Patient-Reported Outcome (PRO) Interview Data by Research Support Staff 
This paper describes the development and initial evaluation of a didactic curriculum to prepare research support staff with the core knowledge and skills required to collect patient-reported outcomes (PROs) via interviews. Research support staff members (N = 77) were recruited for eight separate workshops, each consisting of a didactic presentation followed by role-play scenarios with trained actors depicting common scenarios they may encounter as part of patient interaction. Trainees were observed and received feedback on their performance from trained facilitators and peers. In comparison to their pre-training assessment, trainees showed significant improvement in their confidence to conduct a research interview, handle a distressed participant, manage a wandering interview, ask participants sensitive questions, and handle irritated patients. Training research support staff in the effective collection of PROs via patient interviews can improve the confidence of these individuals in interacting with patients, which can ultimately lead to increased accuracy of data collection.
PMCID: PMC3869186  PMID: 23090591
Outcome Assessment (Health Care); Training; Data Collection; Hospital Medical Staff
4.  Closing the Loop: Action research in a multimodal hereditary cancer patient conference is an effective tool to assess and address patient needs 
This paper describes the use of action research in a patient conference to provide updated hereditary cancer information, explore patient and family member needs and experiences related to genetic cancer risk assessment (GCRA), elicit feedback on how to improve the GCRA process, and inform future research efforts. Invitees completed GCRA at City of Hope or collaborating facilities and had a BRCA mutation or a strong personal or family history of breast cancer. Action research activities were facilitated by surveys, roundtable discussions, and reflection time to engage participants, faculty, and researchers in multiple cycles of reciprocal feedback. The multimodal action research design effectively engaged conference participants to share their experiences, needs, and ideas for improvements to the GCRA process. Participants indicated that they highly valued the information and resources provided and desired similar future conferences. The use of action research in a patient conference is an innovative and effective approach to provide health education, elicit experiences, identify and help address needs of high-risk patients and their family members, and generate research hypotheses. Insights gained yielded valuable feedback to inform clinical care, future health services research, and Continuing Medical Education (CME) activities. These methods may also be effective in other practice settings.
PMCID: PMC3540105  PMID: 22610836
5.  BRCA1/2 Test Results Impact Risk Management Attitudes, Intentions and Uptake 
Women who receive positive or uninformative BRCA1/2 test results face a number of decisions about how to manage their cancer risk. The purpose of this study was to prospectively examine the effect of receiving a positive vs. uninformative BRCA1/2 genetic test result on the perceived pros and cons of risk-reducing mastectomy (RRM) and risk-reducing oophorectomy (RRO) and breast cancer screening. We further examined how perceived pros and cons of surgery predict intention for and uptake of surgery.
308 women (146 positive, 162 uninformative) were included in RRM and breast cancer screening analyses. 276 women were included in RRO analyses. Participants completed questionnaires at pre-disclosure baseline and 1-, 6-and 12-months post-disclosure. We used linear multiple regression to assess whether test result contributed to change in pros and cons and logistic regression to predict intentions and surgery uptake.
Receipt of a positive BRCA1/2 test result predicted stronger pros for RRM and RRO (Ps < .001), but not perceived cons of RRM and RRO. Pros of surgery predicted RRM and RRO intentions in carriers and RRO intentions in uninformatives. Cons predicted RRM intentions in carriers. Pros and cons predicted carriers’ RRO uptake in the year after testing (Ps < .001).
Receipt of BRCA1/2 mutation test results impacts how carriers see the positive aspects of RRO and RRM and their surgical intentions. Both the positive and negative aspects predict uptake of surgery.
PMCID: PMC3039480  PMID: 20383578
breast cancer; BRCA mutation; prophylactic mastectomy; prophylactic oophorectomy; screening; pros; cons
6.  The Identification of Cognitive Profiles among Women Considering BRCA1/2 Testing through the Utilization of Cluster Analytic Techniques 
Psychology & health  2011;26(10):1327-1343.
Based on the Cognitive-Social Health Information Processing model, we identified cognitive profiles of women at risk for breast and ovarian cancer. Prior to genetic counseling, participants (N = 171) completed a study questionnaire concerning their cognitive and affective responses to to being at genetic risk. Using cluster analysis, four cognitive profiles were generated: (a) high perceived risk/low coping; (b) low value of screening/high expectancy of cancer; (c) moderate perceived risk/moderate efficacy of prevention/low informativeness of test result; and (d) high efficacy of prevention/high coping. The majority of women in clusters one, two and three were unaffected, whereas cluster four consisted almost entirely of affected women. Women in cluster one had the highest number of affected relatives and experienced higher levels of distress than women in the other three clusters. These results highlight the need to consider the psychological profile of women undergoing genetic testing when designing counseling interventions and messages.
PMCID: PMC3197930  PMID: 21756124
breast and ovarian cancer risk; cluster analysis; cognitive profiles; genetic testing; psychological distress
7.  Genome-Wide Association Studies of Cancer 
Journal of Clinical Oncology  2010;28(27):4255-4267.
Knowledge of the inherited risk for cancer is an important component of preventive oncology. In addition to well-established syndromes of cancer predisposition, much remains to be discovered about the genetic variation underlying susceptibility to common malignancies. Increased knowledge about the human genome and advances in genotyping technology have made possible genome-wide association studies (GWAS) of human diseases. These studies have identified many important regions of genetic variation associated with an increased risk for human traits and diseases including cancer. Understanding the principles, major findings, and limitations of GWAS is becoming increasingly important for oncologists as dissemination of genomic risk tests directly to consumers is already occurring through commercial companies. GWAS have contributed to our understanding of the genetic basis of cancer and will shed light on biologic pathways and possible new strategies for targeted prevention. To date, however, the clinical utility of GWAS-derived risk markers remains limited.
PMCID: PMC2953976  PMID: 20585100
8.  Randomized Clinical Trial of Telephone-Administered Cognitive-Behavioral Therapy to Reduce Post-Traumatic Stress Disorder and Distress Symptoms After Hematopoietic Stem-Cell Transplantation 
Journal of Clinical Oncology  2010;28(23):3754-3761.
A significant number of survivors of hematopoietic stem-cell transplantation (HSCT) report enduring adverse effects of treatment, including illness-related post-traumatic stress disorder (PTSD) symptoms and general distress. We report results of a randomized clinical trial that tested the effects of a 10-session, telephone-administered cognitive-behavioral therapy (CBT) intervention on PTSD, depression, and distress symptoms.
Survivors who had undergone HSCT 1 to 3 years earlier (N = 408) were assessed for study eligibility. Those who met study eligibility criteria (n = 89) completed a baseline assessment that included a clinical interview and self-report measures of PTSD symptoms (the primary outcome) and depression and general distress (the secondary outcomes). Next, they were randomly assigned to CBT or an assessment-only condition. Survivors in the CBT group completed 10 individual telephone-based CBT sessions (T-CBT) that included strategies to reduce PTSD symptoms, depression, and general distress. Follow-up assessments occurred at 6, 9, and 12 months after the baseline assessment.
Linear mixed-model analyses revealed that, compared with HSCT survivors in the assessment-only condition, survivors who completed T-CBT reported fewer illness-related PTSD symptoms, including less avoidance (P < .001) and fewer intrusive thoughts (P < .05) as well as less general distress and fewer depressive symptoms (P < .05) even after controlling for potential demographic and medical covariates. These results were consistent across the three follow-up assessments.
A brief, telephone-administered CBT intervention developed for HSCT survivors is an efficacious treatment for reducing illness-related PTSD symptoms and general distress.
PMCID: PMC2917309  PMID: 20625129
9.  Prevalence of Lymphedema in Women With Breast Cancer 5 Years After Sentinel Lymph Node Biopsy or Axillary Dissection: Patient Perceptions and Precautionary Behaviors 
Journal of Clinical Oncology  2008;26(32):5220-5226.
Sentinel lymph node (SLN) biopsy was adopted for the staging of the axilla with the assumption that it would reduce the risk of lymphedema in women with breast cancer. This study was undertaken to examine patient perceptions of lymphedema and use of precautionary behaviors several years after axillary surgery.
Patients and Methods
Nine hundred thirty-six women who underwent SLN biopsy (SLNB) alone or SLNB followed by axillary lymph node dissection (SLNB/ALND) between June 1, 1999, and May 30, 2003, were evaluated at a median of 5 years after surgery. Patient-perceived lymphedema and avoidant behaviors were assessed through interview and administered a validated instrument, and compared with arm measurements.
Current arm swelling was reported in 3% of patients who received SLNB alone versus 27% of patients who received SLNB/ALND (P < .0001), as compared with 5% and 16%, respectively, with measured lymphedema. Only 41% of patients reporting arm swelling had measured lymphedema, and 5% of patients reporting no arm swelling had measured lymphedema. Risk factors associated with reported arm swelling were greater body weight (P < .0001), higher body mass index (P < .0001), infection (P < .0001), and injury (P = .007) in the ipsilateral arm since surgery. Patients followed more precautions if they had measured or perceived lymphedema.
Body weight, infection, and injury are significant risk factors for perceiving lymphedema. There is significant discordance between the presence of measured and patient-perceived lymphedema. When compared to SLNB/ALND, SLNB-alone results in a significantly lower rate of patient-perceived arm swelling 5 years postoperatively, and is perceived by fewer women than are measured to have it.
PMCID: PMC2652092  PMID: 18838708
10.  Prevalence of Lymphedema in Women With Breast Cancer 5 Years After Sentinel Lymph Node Biopsy or Axillary Dissection: Objective Measurements 
Journal of Clinical Oncology  2008;26(32):5213-5219.
Sentinel lymph node biopsy was adopted for the staging of the axilla with the assumption that it would reduce the risk of lymphedema in women with breast cancer. The aim of this study was to determine the long-term prevalence of lymphedema after SLN biopsy (SLNB) alone and after SLNB followed by axillary lymph node dissection (SLNB/ALND).
Patients and Methods
At median follow-up of 5 years, lymphedema was assessed in 936 women with clinically node-negative breast cancer who underwent SLNB alone or SLNB/ALND. Standardized ipsilateral and contralateral measurements at baseline and follow-up were used to determine change in ipsilateral upper extremity circumference and to control for baseline asymmetry and weight change. Associations between lymphedema and potential risk factors were examined.
Of the 936 women, 600 women (64%) underwent SLNB alone and 336 women (36%) underwent SLNB/ALND. Patients having SLNB alone were older than those having SLNB/ALND (56 v 52 years; P < .0001). Baseline body mass index (BMI) was similar in both groups. Arm circumference measurements documented lymphedema in 5% of SLNB alone patients, compared with 16% of SLNB/ALND patients (P < .0001). Risk factors associated with measured lymphedema were greater body weight (P < .0001), higher BMI (P < .0001), and infection (P < .0001) or injury (P = .02) in the ipsilateral arm since surgery.
When compared with SLNB/ALND, SLNB alone results in a significantly lower rate of lymphedema 5 years postoperatively. However, even after SLNB alone, there remains a clinically relevant risk of lymphedema. Higher body weight, infection, and injury are significant risk factors for developing lymphedema.
PMCID: PMC2652091  PMID: 18838709
11.  Differences Between the Negatively Activating Potassium Conductances of Mammalian Cochlear and Vestibular Hair Cells 
Cochlear and type I vestibular hair cells of mammals express negatively activating potassium (K+) conductances, called gK,n and gK,L respectively, which are important in setting the hair cells’ resting potentials and input conductances. It has been suggested that the channels underlying both conductances include KCNQ4 subunits from the KCNQ family of K+ channels. In whole-cell recordings from rat hair cells, we found substantial differences between gK,n and gK,L in voltage dependence, kinetics, ionic permeability, and stability during whole-cell recording. Relative to gK,L, gK,n had a significantly broader and more negative voltage range of activation and activated with less delay and faster principal time constants over the negative part of the activation range. Deactivation of gK,n had an unusual sigmoidal time course, while gK,L deactivated with a double-exponential decay. gK,L, but not gK,n, had appreciable permeability to Cs+. Unlike gK,L, gK,n’s properties did not change (“wash out”) during the replacement of cytoplasmic solution with pipette solution during ruptured-patch recordings. These differences in the functional expression of gK,n and gK,L channels suggest that there are substantial differences in their molecular structure as well.
PMCID: PMC2504553  PMID: 15492886
potassium channels; hair cells; inner ear; cochlea; vestibular

Results 1-11 (11)