Research uncovers more inherited genetic mutations linked to ovarian cancer
Previous research has established a link between genetic mutations in the BRCA1 and BRCA2 genes to an increased risk of developing ovarian, fallopian tube or peritoneal cancer in women. A recent publication documents the efforts of a team of researchers affiliated with the Gynecologic Oncology Group (GOG) to determine if inherited genetic mutations other than BRCA1 and BRCA2 can also put a woman at risk of developing these diseases.
The team – which includes Paul DiSilvestro, MD, head of research with the Program in Women's Oncology at Women & Infants Hospital and professor of obstetrics and gynecology at The Warren Alpert Medical School of Brown University – published their findings in the article "Inherited Mutations in Women with Ovarian Carcinoma" in the recent issue of the Journal of the American Medical Society.
"Descriptions of the identity of these genes and their frequency was lacking in the medical literature," Dr. DiSilvestro explains. "The goal of this research was to better define these issues."
More than 1,900 women with ovarian cancer who were identified through the University of Washington gynecologic tissue bank and from various GOG clinical trials made up the study population. Information about mutation frequencies were compared with the National Heart, Lung and Blood Institute GO Exome Sequencing Project and the Exome Aggregation Consortium. Clinical characteristics and survival rates were assessed by mutation status.
What the evaluations revealed was that 18 percent of the women with ovarian cancer carried mutations in genes associated with ovarian cancer risk beyond the BRCA1 and BRCA2 genes.
"The results of this trial expanded our knowledge of the genes that we suspect cause hereditary ovarian cancer, bringing the total to 11," Dr. DiSilvestro says, adding that, "Genetic testing should now begin screening for these nine additional genetic mutations so women carrying the genes can make educated decisions about their health care future."
Women interested in genetic testing can see a genetics counselor with the Cancer Genetics and Prevention Program at Women & Infants. For more information, call (401) 453-7540.
About Women & Infants Hospital
Women & Infants Hospital of Rhode Island, a Care New England hospital, is one of the nation's leading specialty hospitals for women and newborns. A major teaching affiliate of The Warren Alpert Medical School of Brown University for obstetrics, gynecology and newborn pediatrics, as well as a number of specialized programs in women's medicine, Women & Infants is the 11th largest stand-alone obstetrical service in the country with approximately 8,400 deliveries per year. A Baby-Friendly® USA hospital, U.S.News & World Report 2014-15 Best Children's Hospital in Neonatology and a 2014 Leapfrog Top Hospital, in 2009 Women & Infants opened what was at the time the country's largest, single-family room neonatal intensive care unit.
Women & Infants and Brown offer fellowship programs in gynecologic oncology, maternal-fetal medicine, urogynecology and reconstructive pelvic surgery, neonatal-perinatal medicine, pediatric and perinatal pathology, gynecologic pathology and cytopathology, and reproductive endocrinology and infertility. It is home to the nation's only mother-baby perinatal psychiatric partial hospital, as well as the nation's only fellowship program in obstetric medicine.
Women & Infants has been designated as a Breast Center of Excellence by the American College of Radiography; a Center of Excellence in Minimally Invasive Gynecology; a Center for In Vitro Maturation Excellence by SAGE In Vitro Fertilization; a Center of Biomedical Research Excellence by the National Institutes of Health (NIH); and a Neonatal Resource Services Center of Excellence. It is one of the largest and most prestigious research facilities in high risk and normal obstetrics, gynecology and newborn pediatrics in the nation, and is a member of the National Cancer Institute's Gynecologic Oncology Group and the Pelvic Floor Disorders Network.