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Advanced Hereditary Cancer Testing Now Available

Release Date: 05/14/2013

Many women with a personal and/or family history of uterine, colon, ovarian, breast and other cancers choose to undergo genetic testing to see if they possess a genetic mutation that predisposes them to the disease. Recent advances in testing broadens the scope of such analysis, uncovering additional genetic mutations associated with these cancers and also making connections with a woman's increased risk of other cancers.


These new tests – called "next-generation sequencing" – are now available through the Cancer Risk Assessment and Prevention Program in the Program in Women's Oncology at Women & Infants Hospital of Rhode Island. Previously, families with a strong cancer history would often need to undergo multiple rounds of genetic testing before a mutation was found. When appropriate, this new technology makes it possible to test individuals for mutations in multiple genes in a single analysis (one blood draw).


"The new panels simultaneously analyze 14 to 19 additional genes linked to increased risk of uterine, colon, ovarian, breast and other cancers," explains Robert D. Legare, MD, director of the Cancer Risk Assessment and Prevention Program and the hospital's Breast Health Center.


In some cases, he says that means women whose genetic predisposition to breast and ovarian cancer might go undetected because they do not have a mutation of the more commonly analyzed BRCA1 or BRCA2 gene will learn they are at increased risk for breast cancer due to other genetic factors. However, the counseling process becomes critical with these new tests as they include novel genes that have limited available information regarding their associated cancer risk and management.


"Researchers have found additional cancer susceptibility genes in recent years that are now being associated with up to 20% of hereditary breast cancer," Dr. Legare says. "These new tests will analyze those genes when BRCA1 and BRCA2 are negative."


The tests also suggest connections with other cancers by examining these additional genes and gene mutations. Research has shown, for example, that at least 24% of women with ovarian cancer have the underlining germ-line mutation associated not only with an increased risk of ovarian cancer but also with an increased risk of other hereditary cancers such as colon, breast or uterine cancer.


"Next-generation sequencing probes one level further into an individual's genetic structure, finding more answers for these women," Dr. Legare says. "That's our main objective – to find the answers for them and help them strategize accordingly."


Having the added level of testing is important as providers work with the patients to determine what risk-reducing strategies and treatment to follow. Some recommendations might be altered based on her identified risk for additional cancers, Dr. Legare explains.


The Cancer Risk Assessment and Prevention Program addresses concerns men and woman have about the risk of developing cancer. Genetics counselors discuss blood test results with the patient and his or her family and determine a course of action. This might include steps such as mastectomy or simply more regular monitoring of her health.


For more information about genetic testing through the Cancer Risk Assessment and Prevention Program at Women & Infants, or to make an appointment with one of the genetic counselors, call (401) 453-7540. Counselors from the Program also see patients at The Breast Health Center at Kent, a collaborative program between Women & Infants and Kent Hospital in Warwick, and at Oncology Hematology Associates in Westerly, which is affiliated with Women & Infants. Appointments can be made at either of these locations by calling the Women & Infants number.



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 9th largest stand-alone obstetrical service in the country and the largest in New England with approximately 8,500 deliveries per year. A Designated 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 first 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 Imaging Center of Excellence by the American College of Radiography; a Center of Excellence in Minimally Invasive Gynecology; 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.