23andme BRCA1/BRCA2 positive results

kimjmc · April 2018

I had my genome sequenced through 23andme several years ago for ancestry curiosity, but now the company also periodically sends genetic health testing results. I just learned I test positive for three genetic variants of BRCA1/BRCA2 (the report did not get more specific). I wonder if many others are finding this out for the first time and are incredibly surprised.

I'm a 61 year old female with no family history of breast cancer. A great aunt died of ovarian cancer at age 85, with no other known family history of ovarian cancer. How freaked out should I be?

I recently had a breast cancer scare in that I had some symptoms of inflammatory breast cancer: sudden diffuse redness in the right breast with slight right breast enlargement with no other known cause. I asked my primary care physician to refer me, and he send me to a breast surgeon. My own research on the topic of inflammatory breast cancer found that often it does not show up in imaging studies, such as mammograms. A skin-punch biopsy is required for a definitive diagnosis.

The breast cancer surgeon did a 3-D mammogram, which was normal, a visual and manual inspection, and a medical history. This was January 2018. He said he didn't think I had breast cancer, but dermatitis. He did not do a skin-punch biopsy. My health history is not at all suggestive of breast cancer (no family history, two kids breast fed for two years each, etc.). Now 23andme says I am positive for BRCA1/BRCA2. I am flabbergasted and don't know what to think.

Should I rush in for a skin punch biopsy? Should I be phoning my daughters and my sister? Anyone else floored by the 23andme BRCA1/BRCA2 testing results?

farmerlucy · April 2018

I'd want to talk to a genetic counselor. Your radiologist may be able to recommend one. Another option is to take the Color Genomics Brca only test for $99, to see if it supports the 23andMe result. As a part of the testing you get to speak to a genetic counselor. The one I spoke to was able to give me referral options for counselors where my daughter lived. Here is a link https://www.color.com/product/brca-genetic-test?utm_source=Google&utm_medium=cpc&utm_campaign=750180910&kw=color%20genomics&pos=1t1&mt=e&device=t&gclid=EAIaIQobChMI7YvF1ryz2gIVlLjACh2FfwoXEAAYASAAEgIqhPD_BwE

I did the 23andMe and came up with a late onset Alzheimer gene. Grrr. Wish I'd never done it. In your case the information could be life saving, not necessarily for you, since you may be in the clear, but for future generations.

Best of luck!

farmerlucy · April 2018

There is great info on the main site of BCO re: genetic testing. Here is a recent podcast.

http://www.breastcancer.org/community/podcasts/home-genetic-tests-20180309

kimjmc · April 2018

Thanks for the suggestion. I see my PCP later this month, will give him an earful and ask about further genetic testing. I know what you mean about the Alzheimer's gene. I was APOE4 and APOE3. But I was glad to learn that, as I was also very thankful to learn about the BRCA gene results.

kimjmc · April 2018

Listened to the podcast you sent. It seems that the advantage of Color genetic testing is that it is more extensive, not that 23andme is wrong. According to the podcast, the BRCA1/BRCA2 genetic testing through 23andme are variants that most often affect someone with Ashkenazi Jewish heritage and so misses many other genetic variants. Weird, according to 23andme ancestry finding, I had less than 1% Ashkenazi Jewish genetic heritage, but it was there.

farmerlucy · April 2018

It is all so wierd. When I saw a genetic couselor at 51, my risk was deemed to be 50% lifetime or “about the same as a Brca carrier of the same age” per the genetic counselor. Brca typically presents early for BC (30s?) and around 50? for ovarian. Hang in there. Take things step by step.

farmerlucy · April 2018

Also take a look at this. https://www.color.com/learn/family-genetic-testing-program

My DIL’s Mom is Brca pos. Because they knew the exact mutation, they were able to test DDIL for just that mutation, through Myriad for a much cheaper price. This was over five years ago, and prices have come down everywhere. FWIW DIL is Brca neg.

23andme BRCA1/BRCA2 positive results

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