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One in eight women will develop breast cancer in her lifetime. Many of us have heard about the BRCA gene and its connection to breast cancer, but most of us are still left wondering what it is—and whether we should get tested for it.

Dr. A. Nicky Hjort, M.D., OB-GYN, answers this question every day when counseling her patients. As the “lead champion physician” in her office for “incorporating genetic testing for hereditary breast and ovarian cancer,” she is particularly focused on developing meaningful, cost-effective, and efficient means of serving her patients and sharing those tools with other physicians.

Q. What does the BRCA test look for?

Dr. Hjort says hereditary breast cancer screening “typically involves two major groupings of gene mutations,” namely BRCA 1 & 2 and Lynch testing. The BRCA and Lynch genes are responsible for producing proteins that help repair damaged cell DNA in your body—which stops those damaged cells from mutating into cancer. If the BRCA gene is damaged, though, that cancer-preventing ability is hindered. Some mutation to the BRCA gene can be inherited, hence genetic testing. “The BRCA gene infers an increased risk of both ovarian and breast cancer,” which is important because there is “currently no adequate screening for ovarian cancer,” though it is much more frequently fatal. Lynch Syndrome typically involves other cancers in addition to breast and ovarian, such as colon cancer.

Q. Who is at risk for a gene mutation causing their cancer?

Many breast and ovarian cancers are not genetically related, according to Dr. Hjort. She cites the average case as a “nouveau” or “new” mutation in a 65-year-old woman. A nouveau mutation could occur for what Dr. Hjort calls a “litany of reasons,” which may include psychosocial, physical, or environmental factors; stress; exposure to carcinogens; and even disposition or attitude.

An increased genetic risk is determined by a “remarkable family history.” Dr. Hjort suggests four situations:

  • Three family members on either side with breast cancer, or two on the same side
  • A family member with a particularly aggressive and rare tumor
  • A family member diagnosed at an unusually young age, such as 35
  • A family member who is a “known mutation carrier,” that is, someone you already know has the gene.

Q. What should I know about the testing?

Dr. Hjort says the test costs, on average, $2,000-$3,000, so you’ll want to check with your insurance company for coverage. Because of the cost, the test is not performed routinely, like a mammogram or Pap smear. Rather, it’s reserved for those who have a “likelihood of significance that one, they’re at risk for a positive result and two, it becomes clinically meaningful, i.e. we’re going to do something about it,” according to Dr. Hjort.

The company Dr. Hjort’s office uses does a “long-term follow-up,” which means that if a seemingly unimportant variant (“not positive . . . but there’s something a little odd about it”) is discovered to be clinically significant ten years from now, the patient can be informed.

Dr. Hjort says 90 percent of people who get the test test yield negative results, and “not all patients who carry the gene get the cancer.” But for those who do test positive, there is a considerable ripple effect for their families.

Q. How is the test done?

The test is done via a saliva sample. You don’t eat or drink anything for thirty to forty minutes and then spit in a tube. The laboratory takes four to six weeks to process results.

Q. What happens if I get a positive result?

“Once we know you’re positive, now we have to provide care at a higher level for you,” says Dr. Hjort. Unfortunately, a lot of physicians don’t yet know how to counsel or follow-up with positive results. A management plan may include annual breast MRIs, twice-yearly screenings, routine mammograms, prophylactic (preventative) mastectomy, and/or prophylactic removal of Fallopian tubes and ovaries.

Dr. Hjort says there are some patients who would rather not know their results because they are afraid. In that case, she counsels them to consider the implications for their sisters, daughters, aunts, and so on. If the results would change the way a patient of increased risk is cared for, she recommends getting tested.

The National Cancer Institute reports that “harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population.” The good news, says Dr. Hjort, is that today most, but not all, versions of breast cancer are “readily diagnosed and readily treatable.”

If you believe yourself to be at increased risk for any of the reasons above, Dr. Hjort suggests you “have a conversation with someone who knows about the test and who knows what we do next.” It could be the best thing you do for yourself—and for the women you love.

Photo Credit: Horace and Mae Photography