Cancer's got me in a double (helix) bind

Yesterday my husband I drove to my health care provider to meet with a genetic counselor. I went to work afterwards and pondered what the counselor told us.

I took a bus home after work. My regular bus, a commuter express that gets me downtown in about 20 minutes, doesn't run during the week between Christmas and New Year's Day. So, this week I'm stuck taking the poky-little-puppy bus that takes about 40 minutes.

I was wearing a particularly fashionable hat and nice earrings, but apparently that wasn't enough to encourage anyone to sit next to the "masked me" on the bus. The seat next to me was the only one not taken. I was simultaneously pleased and perplexed. I think my feelings are beginning to be hurt.

*****

My father was diagnosed with breast cancer about ten years ago. At that time, I asked if he'd consider being tested for the BRCA mutations, genetic markers that are an indicator for breast and/or ovarian cancer in women.


He kindly agreed to be tested and the results were positive for BRCA1. I was tested and the results were negative.



I assumed I was free and clear and didn't give breast cancer much thought after that, but began to be closely monitored by my health care provider.

Adolph Munter in Spokane, WA

My great-grandfather on my mother's side, Adolph Munter, came to this country from Pinne, Prussia in 1869. Pinne was a town with a large Ashkenazi Jewish population.



Ashkenazi Jews tended to keep to themselves as they spread throughout Central Europe. Their religion and culture isolated them from the Christian cities and towns in which they lived. They married within their communities, and their societal isolation created the possibility of genetic mutations being intensified.

While there doesn't appear to be a lot of breast cancer on this side of the family, it's been recommended that I be tested again to rule out my having these particular genetic mutations.

While I met with the counselor, I was able to ask a question that I've been wondering about. I spend a fair amount of time on my family's history, including trying to find out more about Pinne's Holocuast-decimated Jewish history.

It ends up that genetic archaeology has studied Ashkenazi Jews, the associated BRCA Ashkenazi Jewish founder mutations, and the Holocaust and pogroms. The genetic counselor said that the Holocaust and pogroms created a sort of funnel for the genetic mutations. And since WWII, as the Ashkenazi population increased, so have the risk of the mutations in this population. It's a coincidence that the mutations survived this "funnel".

He then talked about societal isolation as opposed to geographic isolation, such as Iceland, and the types of genetic mutations that have shown up there.

For the general population, the risk of having a BRCA mutation is 1 in 500. For the Ashkenazi Jewish population, it's 1 in 40. That's quite a difference, and the armchair scientist in me is fascinated by this information. The cancer patient in me is intimidated by the cold reality of genetics.