Actress Angela Jolie has revealed that she had a double mastectomy after she learned that she carries a mutated version of the gene BRCA1 and had a very high risk of breast cancer. She explained her decision in a New York Times article. Here are some questions her story may raise for other women.
Q: What is the BRCA1 gene?
A: BRCA1 (pronounced brak-uh) stands for "breast cancer one." It was the first mutated gene that scientists discovered among families whose histories revealed many cases of breast cancer, including cancers at early ages and in both breasts. Ovarian cancers also are common in such families, according to the Stanford Medicine Cancer Institute.;http://cancer.stanford.edu/information/geneticsAndCancer/types/herbocs.html A second such gene is known as BRCA2.
Q: How common are these gene mutations?
A: Rates vary among racial and ethnic groups and according to the specific mutations. In the United States, the rates appear highest in Jewish women of Ashkenazi descent. In one study 2.3 percent of such women carried particular BRCA1 and BRCA2 mutations, a rate that was five times higher than that found in the general population, according to the National Cancer Institute.;http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
Q: How high is the cancer risk in women who carry the mutations?
A: Women with the BRCA1 or BRCA2 mutations have an average breast cancer risk of 60%, according to the NCI. That compares with a risk of about 12 percent for most women. Men with the mutations also have higher breast cancer risks than other men do. But personal risk can vary, based on family history and other factors. Jolie, whose mother died of ovarian cancer at age 56, says her personal risk of breast cancer was estimated at 87%.
Q: Should all women be tested for these mutations?
A: No. As Jolie notes, the tests can be expensive. They are not always covered by insurance. The results also can have immense psychological and medical fallout and raise issues about privacy and discrimination. Though there are no clear-cut rules on who should be tested, it makes most sense to test people who have relatives who have had cancer and tested positive or those whose family histories suggest a very high risk, NCI says. For example, that might include women with two first-degree relatives — mothers, sisters daughters — who have had breast cancer, especially if at least one was diagnosed before age 50.
Q: Does the surgery Jolie had eliminate the risk of breast cancer?
A: Some risk always remains. But in women who are at moderate to high risk, a double mastectomy reduces the risk by about 90%, NCI says.
Q: Are there other options for such women?
A: Yes, some women who test positive for BRCA mutations choose to take medications to reduce their risk. Others opt to have mammograms and other screening tests earlier or more often than would be recommended for women with average risks. None of the options can completely eliminate cancer risks and different choices will make sense for different women, according to FORCE;http://www.facingourrisk.org/info_research/risk-management/introduction/index.php , a group representing families affected by hereditary breast and ovarian cancer.
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