I Stumbled Upon my BRCA+ Results, And It Saved My Life.

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Back in 2013, I took a direct-to-consumer DNA test, with the intention of connecting to relatives.  At the time, the company also provided some health information, including facts about the three BRCA mutations associated with Ashkenazi Jews.  When I took the test, I viewed the health information as a side benefit, since I was primarily interested in the genealogy.

When the results of my tests came back, some of the reports were “locked,” meaning you had to verify you wanted to know the information therein. Thinking I had nothing to fear, I opted in.

The first piece of my locked results: I had a BRCA2 mutation. I was caught off guard. My family does not have a history of breast or ovarian cancer, I thought. How could this be?

I decided to start googling (usually a mistake) and immediately freaked out.  My search results yielded the high cancer risk associated with BRCA mutations.  My results came in on a Sunday night — I didn’t really sleep much. I called my primary care doctor first thing Monday morning.

My doctor advised I meet with a genetic counselor, who confirmed the results and explained some of the implications.  A mutated BRCA2 gene is associated with a much higher than average probability of developing breast, ovarian, pancreatic, and prostate cancers, as well as melanoma.  At that point, I pretty much convinced myself that I had all of the BRCA-associated cancers (except for prostate!).  Every little twinge convinced me that I had cancer.  I initially regretted knowing about my BRCA mutation — it became all I could think about.

The genetic counselor suggested a series of screening tests, including a mammogram and a breast MRI.  Within two months of testing BRCA2+, I had had my first-ever mammogram (which was negative) and an MRI.  The MRI found several suspicious areas, but all of the doctors told me that MRIs have an extremely high false positive rate, which is why they are not offered to the general public. I wasn’t too concerned.  I was sent for an MRI-guided biopsy, during which the radiologist saw another small area that hadn’t been called out on the first radiology report. He decided to investigate further.

Two days later, I received a call. My biopsy results were in. When the secretary refused to tell me anything over the phone, I knew the news wouldn’t be good.  I left work and went in to find out that I did, in fact, have breast cancer.  We caught it extremely early — the whole tumor was 6 millimeters — and it was hiding in the small area that wasn’t even supposed to be biopsied.  Had I not known that I was BRCA2+, I never would have undergone that MRI and the tumor would have been significantly larger before it was discovered.  Though I at first resented knowing that I tested positive for the BRCA2 gene, now I couldn’t be any more grateful. Knowledge, I realized then, is power.

Upon hearing this story, one of my doctors asked me if I was religious.  When I told him that I was, he confided that this was one of the clearest miracles he had ever seen.  The type of cancer I had (lobular) and the location of the tumor would have made it very difficult to detect, as it doesn’t tend to form a lump and also tends to be missed on mammograms.  He told me that without the knowledge that I was BRCA2+, we likely wouldn’t have met for at least five years, and the treatment and prognosis would have been very different.

With the knowledge I gained from my DNA test results, I was able to reach out to relatives and encourage them to also get tested.  Some did not carry the mutation, which was wonderful to hear.  Others tested positive and took proactive measures accordingly.

I’ve learned that 1 in 40 Ashkenazim have a BRCA mutation, about ten times the rate of the general population.  Think about your high school class, the shiur you went to last week or the block on which you live.  If there are 40 or more Ashkenazim in any of those groups, odds are that some of those individuals are BRCA+.  I know personally that there are many observant women who grapple with the knowledge of having a BRCA mutation or knowing the mutation exists in their families. Still, information grants you the option to take proactive steps to ensure the best possible outcome for you and your family.

(I co-administer a secret Facebook group for Orthodox women with BRCA mutations.  If you qualify to join, please message me, and I can get you added.)

Both men and women can have mutated BRCA genes; men with BRCA mutations are at higher risk of cancers than those who aren’t, but their expected rate of cancer is far lower than that of women.  Therefore, many people have BRCA mutations without a strong family history.  Unlike the recessive genes that contribute to diseases like Tay-Sachs and Gaucher’s Disease, BRCA mutations are dominant, meaning only one parent has to be a carrier for a child to inherit the gene.  (This is the reason BRCA testing is not done through organizations like Dor Yesharim or JScreen, which deal with couple compatibility.)  Just one copy of a mutated gene from either parent can elevate your risk of cancer.

I didn’t have a chance to ask about getting tested because of how I found out about my mutation.  But a family member asked her rabbi before testing.  He asked her if there were steps she could take if she tested positive.  She said there were, and relayed my story.  His response: “Then, of course, you should take this test.”

The decreased cost and increased ability to access BRCA testing over the past few years has been a game-changer. You can test with a kit sent to your house for under $100 (here) and be informed of the results by phone by a certified genetic counselor who will talk you through the implications of your results — whether they be positive or negative.

Sadly, there’s a stigma about cancer in the Orthodox community. Coming to grips with my BRCA mutation is not easy, and for a time it can be all-encompassing.  But I believe my story demonstrates the importance and power of having this knowledge. Knowing my BRCA status very well may have saved my life.

Lara Diamond lives in Baltimore.  She writes and lectures about Jewish
and genetic genealogy and runs several projects aimed at gathering and
indexing Jewish vital records from pre-war Europe.  She blogs at
http://larasgenealogy.blogspot.com/ .