In 2012, Pamela N. Munster, MD, was discussing a new breast cancer medication with a colleague when her phone vibrated. The voice on the other end told the BRCA expert that multiple “irregularities” had been detected on her own breast scan.

At age 48, Dr. Munster was diagnosed with an early form of breast cancer…subsequent genetic testing revealed she was BRCA2 positive, meaning that she was far more likely to develop breast cancer and ovarian cancer than the general population. She went from doctor to patient, undergoing treatment and recovery, to then see her father get diagnosed with a BRCA-related pancreatic cancer.

Here, she shares the details of her experience, along with important facts about the BRCA genetic mutation that could save your life or the life of someone you love.

The 411 on BRCA. Everybody has two copies of the BRCA1 and BRCA2 genes. Their everyday role is to produce special tumor–suppressing proteins that help to repair any DNA damage that occurs constantly as part of a normal process in all cells.

Problems can arise when either of these two genes is abnormal. A faulty BRCA gene can allow DNA damage to go unrepaired and give cancer more opportunities to develop. For reasons that are not yet completely clear, BRCA genes are particularly important in certain tissues causing specific cancers.

A woman with a BRCA mutation has a 60% to 80% lifetime risk of developing breast cancer, compared with 12% for the average woman. Her lifetime ovarian cancer risk is also higher—about 40% to 50% for those with a BRCA1 mutation and approximately 20% to 30% for those with a BRCA2 mutation, compared with less than 2% for the average woman.

An underrecognized problem: Men can carry BRCA mutations, too, driving their lifetime breast cancer risk up to 5% to 10% versus 0.1% for the average man. They are also seven times more likely to develop prostate cancer, often a very aggressive form and at an earlier age than usual.

A study presented at the 2017 Annual Scientific Meeting of the American Urological Association found that men with BRCA mutations are also at greater risk of developing multiple other types of cancer. Particularly, BRCA2 mutations are linked to skin, pancreatic, digestive tract and colorectal cancers. Women with BRCA2 mutations also are at increased risk for these cancers.

Criteria for getting tested. Many people think, My mother didn’t have breast cancer, so I don’t have to worry. But anyone with a BRCA1 or BRCA2 mutation, male or female, can pass it on to their daughters and sons, who will each have a 50% chance of inheriting the mutation, and the cancer doesn’t necessarily need to be in an immediate relative for you to have a mutation. Consider BRCA mutation testing if you…

  • Have a relative, on either side, who was diagnosed with breast cancer before age 50, had cancer in both breasts or was a male with breast cancer.
  • Have both breast and ovarian cancers in your family, on either side, especially multiple people with breast cancer, or if you’re of Ashkenazi Jewish descent.
  • Have any relative with pancreatic cancer or male relatives with prostate cancer at a younger age.
  • Are adopted or have few close relatives and therefore an unknown or limited family medical history.

It’s never too late for testing. Once I tested positive, I knew it had to be from my dad or my mom. So I encouraged my then-78-year-old father to get tested. His own mother survived breast cancer in her 60s, so my mutation was likely passed down through him. He tested positive for the BRCA2 mutation.

One year later, he began complaining of unexplained abdominal pain. This vague symptom might be waved off in most patients, but knowing his BRCA status and increased cancer risk, I urged him to get a full workup. An MRI revealed pancreatic cancer, with a large tumor that was deemed inoperable. But because he received a chemo targeted to BRCA tumors, despite his age, his tumor shrunk by half, rendering it operable. He just surpassed his five-year survival mark.

Given the high lifetime risk for breast cancer in BRCA mutation carriers, prophylactic mastectomy or very close monitoring is suggested. When it comes to ovarian cancer, most women with a BRCA mutation will opt to have their ovaries removed once they have completed childbearing. If you’re past menopause and have already gone through the changes that come from the loss of estrogen, the effects of the surgery may be more tolerable. Hormone replacement therapy may ease the transition for those undergoing the surgery in their 30s or 40s.

Be cautious with at-home tests. Last year, the FDA approved 23andMe’s direct-to-consumer BRCA test. While advances have been made in this field, there can be perils. You may not want to find out potentially life-altering news for yourself and your family via mail without the counseling and support of a health-care provider who can put the relevance of your mutation into perspective or refer you to a clinic for screening and prophylactic surgeries if you indeed carry a mutation.

Also, many tests only screen for certain mutations—23andMe screens for three mutations in the BRCA1 and BRCA2 genes out of more than 1,000. These three variants are almost exclusively found in the Ashkenazi Jewish population. So if you are of another ethnicity, your results will likely come back negative even if you are, in fact, BRCA positive. I’m of Swiss-French ancestry, and my own 23andMe results showed no BRCA mutations.

Bottom line: Consult a specialist for a full screening if you want testing. Find one via the National Society of Genetic Counselors at Insurance covers testing if you meet certain criteria such as a family history of breast cancer.

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