If you inherit a change, or mutation, in these genes, they stop doing their jobs, and cancer can develop. In the United States, about 1 in every 400 people has a BRCA gene mutation. Both women and men can be affected. (1) Most individuals acquire just one of these mutated genes, but some people can have both a BRCA1 and a BRCA2 alteration. (2) Research shows that anywhere from 55 to 72 percent of women with BRCA1 genetic mutation and 45 to 69 percent of women with a BRCA2 genetic mutation will develop breast cancer. To put that in perspective, women in the general population have about a 12 percent chance of developing breast cancer at some point in their lives. (3) The risk of developing ovarian cancer is also high for women with a BRCA1 or BRCA2 gene alteration. About 44 percent of women with a BRCA1 mutation and about 17 percent of those with a BRCA2 mutation will develop ovarian cancer by age 80. Only about 1.3 percent of women in the general population are likely to have ovarian cancer during their lives. (3) In addition to breast and ovarian cancer, having a BRCA gene mutation can increase a woman’s risk of developing:
Cervical cancerUterine cancerPancreatic cancerColon cancerStomach cancerGallbladder or bile duct cancerMelanoma
Men with a BRCA mutation may be more likely to have:
Breast cancerTesticular cancerPancreatic cancerProstate cancer (4)
These genes also interact with other proteins in the body and are involved in helping cells repair damaged DNA. (5,6) Genetic testing involves providing a sample of blood or saliva, so doctors can analyze it in a lab. This test is only recommended for people at high risk, such as those who have or have had:
Breast cancer before age 50Breast cancer in both breastsBreast and/or ovarian cancerOne or more family members with breast cancer, ovarian cancer, pancreatic cancer, or prostate cancerA male relative with breast cancerA family member with a BRCA mutation
Additionally, people of Ashkenazi Jewish descent are more likely to have a mutation and may want to consider genetic testing. (7) It’s a good idea to meet with a genetic counselor. This professional can help assess your family history, explain the pros and cons of testing, and help you interpret your results. Men and women with a BRCA mutation have a fifty-fifty chance of passing it on to each of their children. Identifying the mutation can help you better understand your cancer risk and that of your children and other descendants. (7) If your result is positive, you’ll undergo earlier and more frequent diagnostic tests, such as mammograms, breast MRIs, ultrasounds, pelvic exams, and breast exams. Doctors will typically also screen for pancreatic cancer and screen more aggressively for prostate cancer in men who carry a BRCA mutation. You may also choose to take a cancer-fighting drug, like tamoxifen (Soltamox), to reduce your risk of developing breast cancer. Or your doctor might recommend that you take birth control pills for a certain amount of time to lower your chances of ovarian cancer. Some women choose to have preventive surgery, such as prophylactic breast removal (mastectomy) or ovary removal. A preventive mastectomy can reduce breast cancer risk in women with a BRCA mutation by as much as 90 percent. (7) Your doctor can explain your options in detail.
