Mutations in the BRCA1 and BRCA2 genes account for nearly 25 percent of hereditary breast cancers and most hereditary ovarian cancers, yet a study by cancer prevention and control researchers at Virginia Commonwealth University Massey Cancer Center suggests an alarmingly small amount of women who qualify for BRCA genetic counseling actually receive the services. Additionally, they found that a significant proportion of women with a family history of breast and ovarian cancer underestimate their own risk.

The study, published in the April edition of the Journal of Community Genetics, collected data from 486 women over the course of two years. Of these women, 22 met the criteria to be referred for BRCA counseling. However, only one of the women reported receiving genetic counseling and only one reported prior genetic testing. And while perceived risk of developing breast and ovarian cancer was higher among high-risk women, 27 percent of high-risk women felt their risk was “low,” and 32 percent felt their risk was “lower than average.” Despite having a diverse population, the researchers did not find any significant differences associated with factors such as age, race, family size or the patient’s knowledge of genetic testing.

“Despite recommendations from the United States Preventive Services Task Force that primary care physicians screen for hereditary cancer risk, it seems that too few women who meet the eligibility criteria are actually following through with BRCA counseling services,” says the study’s lead investigator John Quillin, Ph.D., M.P.H., member of the Cancer Prevention and Control research program and genetic counselor in the Familial Cancer Clinic at Virginia Commonwealth University Massey Cancer Center and assistant professor in the Department of Human and Molecular Genetics in the VCU School of Medicine. “Unfortunately, this means that a significant number of women who are at high-risk for developing breast and ovarian cancer may not be taking advantage of preventive measures that could ultimately save their lives.”

The researchers analyzed data from a pilot study called Kin Fact (Keeping Information about Family Cancer Tune-up) that was conducted at the VCU Women’s Health Clinic. Kin Fact works by having a clinical research associate intervene during a woman’s annual gynecology appointment to discuss the patient’s genetic cancer risks. Participants were asked to complete a self-administered survey that asked questions about their knowledge of genetic counseling and their perceived cancer risk. After completing the survey, the study’s recruiters obtained information about the patient’s hereditary cancer risks by noting all breast and ovarian cancers among first-and second-degree relatives. The researchers’ goals were to assess the amount of women eligible for BRCA counseling in a primary care setting, explore associations between high-risk status and characteristics such as age, race and genetic literacy, and determine whether high-risk patients received genetic counseling and/or testing.

“We need to examine whether patients are fully aware of their family history, and if there are ways to optimize family history collection in clinical settings,” says Quillin. “This will help determine if educational interventions are needed for providers, patients or both.”

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Quillin collaborated on this study with Alexander H. Krist, M.D., M.P.H., assistant professor in the Department of Family Medicine and Population Health at the VCU School of Medicine and member of the Cancer Prevention and Control research program at Massey; Maria Gyure, M.S., C.G.C., research coordinator and genetic counselor in the Department of Human and Molecular Genetics at the VCU School of Medicine; Rosalie Corona, Ph.D., L.C.P., associate professor of health psychology and clinical psychology in the VCU Department of Psychology and founding director of the VCU Latino Mental Health Clinic; Vivian Rodriguez, graduate student in the VCU Department of Psychology; Joseph Borzelleca, Jr., M.D., M.P.H., emeritus professor in the VCU Department of Pharmacology and Toxicology; and Joann N. Bodurtha, M.D., M.P.H., professor of pediatrics and oncology at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University.

This study was supported by National Cancer Institute (NCI) R01 grant CA140959 and, in part, by Massey’s NCI Cancer Center Support Grant P30CA016059.

News directors: Broadcast access to VCU Massey Cancer Center experts is available through VideoLink ReadyCam. ReadyCam transmits video and audio via fiber optics through a system that is routed to your newsroom. To schedule a live or taped interview, contact John Wallace, (804) 628-1550.

About VCU Massey Cancer Center

VCU Massey Cancer Center is one of only 68 National Cancer Institute-designated institutions in the country that leads and shapes America’s cancer research efforts. Working with all kinds of cancers, the Center conducts basic, translational and clinical cancer research, provides state-of-the-art treatments and clinical trials, and promotes cancer prevention and education. Since 1974, Massey has served as an internationally recognized center of excellence. It offers the most cancer clinical trials in Virginia and serves patients at 10 locations. Its 1,000 researchers, clinicians and staff members are dedicated to improving the quality of human life by developing and delivering effective means to prevent, control and ultimately to cure cancer. Visit Massey online at http://www.massey.vcu.edu or call 877-4-MASSEY for more information.

About VCU and the VCU Medical Center

Virginia Commonwealth University is a major, urban public research university with national and international rankings in sponsored research. Located in downtown Richmond, VCU enrolls more than 31,000 students in 222 degree and certificate programs in the arts, sciences and humanities. Sixty-six of the programs are unique in Virginia, many of them crossing the disciplines of VCU’s 13 schools and one college. MCV Hospitals and the health sciences schools of Virginia Commonwealth University compose the VCU Medical Center, one of the nation’s leading academic medical centers.

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John Wallace
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804-628-1550
Virginia Commonwealth University