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“Knowledge is power: The more women know about BRCA testing, the more likely they are to make healthy decisions for themselves,” says Susan Klugman, MD, director of reproductive and medical genetics on the Montefiore Health System Medical Center within the Bronx and a director of the American College of Medical Genetics and Genomics. Here are six issues to know.
1. You can check optimistic and never get breast most cancers—and vice versa.
While having a BRCA gene mutation enormously will increase your danger of growing breast most cancers, it’s on no account a assure. An estimated 55 to 65% of ladies who inherit the BRCA1 mutation and round 45% of ladies who’ve the BRCA2 mutation will develop breast most cancers by age 70, based on the National Cancer Institute.
“I’ve had [young] patients with breast cancer test positive for a gene mutation and then, when we test their mothers, we learn that they are also carriers of these mutations but are in their 60s or 70s and have never developed any cancers,” says Mary Freivogel, MS, CGC, president of the National Society of Genetic Counselors. Researchers are mystified as to why, however 1 concept is that there could also be different “modifier” genes that both dial up or down your danger.
The flip aspect is that it is doable to check unfavorable for the BRCA gene mutation and nonetheless find yourself with breast most cancers. All girls have at the least a 1 in 8 likelihood of growing it throughout their lifetime, and solely 5-10% of instances have any recognized hereditary hyperlink. Even in households the place most cancers runs rampant, BRCA mutations aren’t all the time current, factors out Freivogel.
That’s why it’s essential to comply with screening pointers from teams just like the American Cancer Society, which advise beginning yearly mammograms by age 45. (If you have got a household historical past of breast most cancers or different danger elements, your physician might advise you to start out screening earlier.)
2. If you do check optimistic for a mutation, mastectomy isn’t your solely choice.
Angelina Jolie made headlines within the New York Times in 2013, when she wrote about having a preventative double mastectomy after studying she carried the BRCA1 gene mutation. This kind of surgical procedure has been proven to scale back the chance of growing breast most cancers in girls with both BRCA gene mutation by 95%. If that sounds too drastic to you or it is not financially possible (your medical insurance won’t cowl preventive surgical procedure), you can even select a extra conservative technique. One choice is to get each an MRI and mammogram every year, normally beginning at age 30, says Klugman. (Here’s what you possibly can anticipate at your first mammogram.)
You can even communicate to your physician about taking tamoxifen, a drug accepted by the U.S. Food and Drug Administration (FDA), notes Klugman. Research reveals it may possibly reduce the chance of breast most cancers considerably, probably by as a lot as 49% in case you’re at excessive danger of the illness. Ask your physician to clarify the drug’s advantages and unwanted effects, which typically embody nausea and sizzling flashes.
Here’s learn how to do a self breast examination:
3. BRCA is not nearly breast most cancers.
Although many individuals consider it because the “breast cancer gene,” BRCA can also be carefully tied to ovarian most cancers. About 39% of ladies with the BRCA1 mutation and 11 to 17% with a BRCA2 mutation will develop ovarian most cancers. If you check optimistic, you may take into account following Christina Applegate’s lead and eradicating your ovaries and fallopian tubes. (As many as 70% of ladies within the United States who be taught they’ve BRCA mutations select to take action.) A 2014 research revealed within the Journal of Clinical Oncology discovered that this surgical procedure decreased ovarian most cancers charges by 80%.
“Unlike breast cancer, we don’t have very good screening tests when it comes to ovarian cancer, particularly early stage ovarian cancer,” says Klugman. “I’ve found that patients are much more accepting of taking out both ovaries and accept that at a much higher rate than preventative mastectomy. A lot of that is due to the fact that, unlike a mastectomy, it’s not readily visible.”
4. You can inherit BRCA gene mutations out of your dad’s aspect of the household.
Fifty p.c of your genes come out of your father, so it is smart that if his mom and grandmother died of breast most cancers, you’re at larger danger too, says Klugman. If there’s a historical past of breast most cancers in 2 or extra shut family on dad’s aspect, reminiscent of his mother and aunt, or his sister, ask your doctor for a referral to a medical geneticist or a genetic counselor to see if it’s essential to bear testing.
Other pink flags to observe for, on both aspect of the household tree: a male family member with breast most cancers, a member of the family with each breast and ovarian most cancers or bilateral breast most cancers (in each breasts), or any relative with ovarian most cancers. You must also be on excessive alert in case you’re of Ashkenazi (Eastern European) Jewish ancestry and have an in depth relative with breast, ovarian, or pancreatic most cancers. These elements don’t essentially imply that you’ve got a BRCA gene mutation, however it’s price speaking to an skilled to search out out if try to be examined.
5. If your mother has breast most cancers, you shouldn’t simply race into BRCA testing.
Ideally, the member of the family who had most cancers will get examined first, says Freivogel. If your mother had breast most cancers and she or he checks unfavorable, you most likely gained’t profit from the check as a result of she could not have handed that mutation on to you. (And if she checks optimistic, there’s much more impetus so that you can get examined.) But “every family is different,” says Freivogel. There could also be different the reason why you want testing: For instance, in case your father has first-degree family with each breast and pancreatic most cancers. That’s why assembly with both a genetic counselor or medical geneticist to evaluate your particular person danger is so essential.
6. There are different breast most cancers gene checks on the market.
Over the previous few years, researchers have discovered different inherited gene mutations that improve the chance of breast most cancers, together with ATM, CDH1, PALB2, and TP53 (p53). Some of those additionally improve your danger of growing different forms of cancers. (Never ignore these 10 indicators of most cancers.)
If you’ve had the BRCA check up to now and it got here again unfavorable, you could wish to take into account a few of these newer checks, that are normally supplied as a part of an expanded gene panel. “The technology has changed so much in just the last few years, that even if you were screened just two or three years ago it’s worth going back to your genetics provider and asking about more testing,” advises Freivogel.
Hallie Levine from prevention.com