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The BRCA gene and breast cancer

October 1, 2018

If a person inherits a BRCA1 or BRCA2 gene mutation from a parent, they have a higher chance of getting specific types of cancer.

Actress Angelina Jolie made headlines in 2013 when she announced she had a double mastectomy despite not having breast cancer.

Instead, she found out she had a genetic mutation in the BRCA gene, which significantly increased her risk of breast cancer.

Her decision jump-started a conversation about whether women should undergo elective surgery to lessen their risk of breast cancer before any diagnosis or the different factors to take into consideration when determining treatments.

What is it?

According to the Mayo Clinic, the BRCA gene mutation is responsible for 5 to 10 percent of breast cancer cases and about 15 percent of ovarian cancer cases. A blood test can find the mutation in the

BRCA1 or BRCA2 genes. You may consider this form of testing if you have a personal history of breast cancer diagnosed at a young age or affecting both breasts; a personal history of ovarian cancer; a family history of breast, ovarian or pancreatic cancer; or a relative with a known BRCA gene mutation. People who have a close male relative with breast cancer are at greater risk as well. Talk to your doctor about your family history with all types of cancer to get a better understanding of your risk.

What to do?

If you get a positive result, this does not mean you will develop breast cancer. If you know you’re at greater risk, consider more frequent clinical screenings; taking oral contraceptives, which have been shown to reduce the risk of ovarian cancer; chemoprevention, which is hormonal medication that reduces the risk of breast cancer; or Jolie’s choice to have preventive surgery. This reduces the chance of breast cancer by about 90 percent, according to research. It’s not clear how much it reduces the risk of ovarian cancer.

Who benefits

Women who have been diagnosed with breast cancer may also benefit from getting the test. The National Cancer Institute discussed a study related to the BRCA mutation, in which women 40 years old and younger who had been diagnosed with breast cancer were tested for the mutation. Of the hundreds of women tested, about a third told researchers it influenced their cancer treatment — 86 percent of those with the mutation had both breasts removed even though both were not affected by the cancer, while 53 percent also had their ovaries and fallopian tubes removed.

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