In the News: What is the BRCA gene?

By Jennifer C. Yates

Actress Angelina Jolie announced today that she had a double mastectomy after finding out she had a BRCA1 gene mutation which put her at a greater risk of developing breast cancer. 


With a family history of the disease - her mother died in her 50s after battling ovarian cancer - Jolie said she  made the decision to have the surgery because it was something she could do to reduce her risk. She made the announcement in a New York Times op-ed that was published today and coincides with Women's Health Week.


"I choose not to keep my story private because there are many women who do not know that they might be living under the shadow of cancer. It is my hope that they, too, will be able to get gene tested, and that if they have a high risk they, too, will know that they have strong options," Jolie wrote.


So what is the BRCA gene? We asked Nancy E. Davidson,M.D.,  director of the UPMC CancerCenter and the University of Pittsburgh Cancer Institute,  and genetics counselor Darcy Thull, M.S., C.G.C., with the UPMC Cancer Genetics Program, to explain.

Q.  What is the BRCA gene?
A.  There are two BRCA genes: BRCA1 and BRCA2. Both men and women have two copies of each gene. These genes play a role in preventing specific types of cancer. 

Q. What is the BRCA gene test?
A. The BRCA gene test is a blood or saliva test that can detect harmful genetic changes (mutations) in either the BRCA1 or BRCA2 genes. If a woman has inherited a BRCA gene mutation, she has an increased risk of developing breast and ovarian cancer in her lifetime.

Most breast cancers occur in women who do not have a strong family history of the disease, but about 5 to 10 percent are linked to a genetic predisposition. In the United States, it is estimated that somewhere between one out of 345 to 1,000 individuals carries a BRCA mutation.

Q. Who should consider BRCA gene testing?
A. Women with a personal history of breast cancer prior to age 45 or women with a strong family history of breast or ovarian cancer (3 or more family members) should consider cancer risk assessment and genetic counseling for BRCA gene testing.  Speaking to a genetic counselor can provide information about your cancer risks and the risks that a BRCA mutation will be found.

Q. Can men also have a BRCA gene mutation?
A. Yes, both men and women can have a BRCA gene mutation. Men who have a BRCA gene mutation may have a higher risk for breast and prostate cancers.  The UPMC Cancer GeneticsProgram counsels men and women with a strong family history of cancer.  Hereditary cancer families can then be treated and managed through various UPMC High Risk Programs. 

Q. What should a woman  do if a test finds she has a BRCA mutation?
A. If a woman  knows she has a BRCA gene mutation, she  can take action. She may undergo heightened breast cancer screening including annual mammogram and breast MRI starting at a younger age. In some cases, she may choose to take a medication that can reduce the breast cancer risk or she may pursue preventive surgery. A mastectomy (surgical removal of the breast tissue) reduces the chances a woman will develop breast cancer by 90 percent. She will also need management of ovarian cancer risk.