BRCA1 and BRCA2: Can You Have Both?

Photo Credit: Foter.com chrisjohnbeckett

 

Recently I met a delightful woman in her sixties with the unusual BRCA problem of being both BRCA1 and BRCA2 positive. There were of course, many cases of cancer in her family and she herself was a breast cancer survivor. When the time came for her children to be tested, most of them discovered they were also carriers of this genetic double whammy. One of her daughters  greeted her own BRCA test results with the following comment to her mother:

“Mom, we’ve been jewed.”

I have to admit this made me giggle. Anyone who can crack a joke in the face of bad news is alright in my book.

Although unusual, it is possible to be both BRCA1 and BRCA2 positive. The risks it confers for women are estimated to be something akin to the higher risk of breast and ovarian cancer that come with BRCA1 as well as the higher risk from BRCA2 for pancreatic cancer and melanoma. Not a nice combo.

It is also true that Jews who are of European descent (Ashkenazi Jews) are roughly ten times more likely to carry a defect in the BRCA genes than other populations. That means about 1 in every 40 Ashkenazi Jews are carriers. There are three specific mutations that are common in this group. Can you be Ashkenazi and have a BRCA mutation that is not one of these “founder” mutations? Of course. That is precisely what I have.

Where did my personal mutation come from? Did I get jewed too? I can find no information about my specific mutation, this D1692H guy. I have yet to see it listed on any of the message boards where carriers can post these things. He’s just one of a bazillion harmful mistakes that can occur in the genetic codes of these two genes. Like many Americans, I am a mix of cultures and ethnicities. A mutt. I come from a family that has lots of cancer on one side. Wherever Mr. D1692H came from, it matters little. My family may not have gotten jewed, merely screwed.

I can seldom resist a tasteless joke.

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