A test for mutations in the BRCA1 gene helped inform actress Angelina Jolie's recent headline-making decision to undergo a double mastectomy to mitigate what doctors estimated to be an 87% risk of developing breast cancer. The test confirmed she has a mutated BRCA1 gene, one of two genes for which mutations are linked with hereditary breast and ovarian cancers.
While the purpose of BRCA1 or BRCA2 testing is to determine a person's risk of developing breast or ovarian cancer due to mutations in these genes, it is not useful for everyone. Only 0.2% of the U.S. population carries a BRCA mutation, so testing is not recommended for the average person. Higher risk groups that should consider testing include those who have had breast cancer before the age of 50 or ovarian cancer at any age, those with family members who meet these criteria, males with breast cancer, and those who have a family history of BRCA1 or BRCA2 mutations. It is highly recommended that candidates for the test seek the advice of a genetic counselor both before and after testing. (For more on the test, read the BRCA1 and BRCA2 article.)
When functioning normally, BRCA1 and BRCA2 are tumor suppressor genes that help prevent cancer by producing proteins that suppress abnormal cell growth. A person who inherits mutated copies of the BRCA genes can be at risk of uncontrolled cell growth and development of cancer. According to doctors, the preventive surgery reduced Jolie's breast cancer risk down to 5%.
Jolie announced her decision to have the double mastectomy in a May 14 op-ed article for the New York Times, citing her mother's untimely death from ovarian cancer at the age of 56 as a motivating factor. News then broke that Jolie will also have her ovaries removed because the BRCA1 test revealed that she has a 50% chance of developing ovarian cancer.
According to the American Cancer Society, each year about 225,000 women are diagnosed with breast cancer and 22,000 with ovarian cancer. Mutations in BRCA1 or BRCA2 are responsible for a small portion of these cases, estimated to be between 5% and 10%. Women with BRCA mutations have up to an 85% risk of developing breast cancer and a 30-50% risk of developing ovarian cancer. Individuals who test positive for a BRCA mutation can opt to have preventive surgery like Jolie or use risk-reducing medications such as tamoxifen and surveillance techniques like mammography.
While noting that sharing her experience was meant to raise awareness about options for prevention, Jolie recognized that such surgical intervention is not for everyone. People with a BRCA mutation should carefully consider options and discuss with their doctor and a genetic counselor.
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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used.
Jolie, A. (2013 May 14, Published). My Medical Choice. The New York Times. Available online at http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?_r=0 through http://www.nytimes.com. Accessed on 5/19/13.
Angelina Jolie will have ovaries removed. (2013 May 16 Published). ABC News. Available online at http://abclocal.go.com/kabc/story?section=news/entertainment&id=9105158 through http://abclocal.go.com. Accessed on 5/19/13.