Breast & Ovarian Cancer Gene Testing

Hereditary breast and ovarian cancer (HBOC) syndrome is an inherited cancer-susceptibility syndrome. The hallmarks of this syndrome are multiple family members with breast and/or ovarian cancer and early age of breast cancer onset. In patients at high risk for hereditary breast and ovarian cancer syndrome, genetic testing for BRCA1 and BRCA2 germline mutations is available. The BRCA gene testing is provided by the company Myriad and can be performed from a small blood or saliva sample collected in our office. The result of this test can help physicians precisely identify who is at substantial risk of breast and ovarian cancer. Approximately 10% of cases of ovarian cancer and 3-5% of cases of breast cancer are due to these 2 mutations. In the general population, 1 in 300-800 individuals carry a mutation in BRCA1 and BRCA2. These mutations are more common in certain populations including Ashkenazi Jews, French Canadians, and Icelanders. For a woman with a BRCA1 mutation, the risk of ovarian cancer is about 40-46%, and for BRCA2, the risk is 12-20%. The estimated lifetime risk of breast cancer with either mutation is 65-74%. Primary peritoneal cancer and primary fallopian tube cancer risks are also increased. To learn more about BRCA gene testing, please visit the Myriad website.

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