Breast Cancer Susceptibility
Recent news reports are filled with stories about BRCA gene mutations and how they affect a woman (or man’s) risk of developing several types of cancer. Even though the designation stands for BReast CAncer susceptibility genes, the presence of a mutation signals increased risk for a number of cancer types including breast, ovarian, pancreatic and melanoma in women. Men with a mutation face increased risk of breast, pancreatic, testicular, and early onset prostate cancer.
A blood test using DNA analysis is available to identify the presence or absence of a harmful mutation. This test is offered to people whom, based on family history, are likely to have a BRCA mutation. The test is also offered to women with certain types of breast cancer but not to people with average risk. Genetic counseling is recommended before and after the test is performed.
BRCA mutations account for 5-10% of breast cancers and 10-15% of ovarian cancers among white women in the U.S. Women who have a relative with a harmful BRCA mutation, or 2 first-degree relatives (mother, daughter, sister) diagnosed with breast cancer, particularly if diagnosed before age 50, should speak with their healthcare providers about the test. The mutation is found more frequently in women of Ashkenazi Jewish descent. These women should seek advice about testing if any first-degree relative is diagnosed with breast or ovarian cancer.
The full criteria for testing go beyond the scope of this post and there are choices to be made for those who test positive. Dr. Amy Siegel is experienced with BRCA testing and are prepared to offer advice on when testing is appropriate and on actions that can be taken if the test is positive for BRCA 1 or 2. Possible actions range from surveillance through medication or surgery. It is important to remember that each person’s risk is different and must be considered individually. Speak with Dr. Siegel at your next appointment.