Thursday, November 8, 2007

More Genetic Testing

Two weeks ago I met with another genetic counselor at Mass General upon the recommendation of Dr. Goss, aka Dr. McDreamy. Long story short...the genetic testing I had done previous came back with a result of "no mutation detected" for the BRAC 1 and the BRCA 2 gene (breast cancer and ovarian cancer genes). I had the short sequencing done which is about 85% accurate. The genetic counselor at MGH told me about the full sequencing test which in combination with the other one would be about 99% accurate. I went ahead and opted to get that done. The results came back the same - no mutation detected. Good news!

We also discussed another gene called p53. This one is not so good. It is a very rare genetic mutation that only a couple hundred people in the world are known to have. It increases your risk of brain (any type) cancer, breast cancer, adrenal cancer, childhood leukemia and sarcomas (soft tissue and bone cancers). With my genetic history, she beleives there is a 10% chance of me carrying this gene. I did not want to get tested for it. There is nothing you can do about it if you are found to be a carrier so what's the point? We both agreed that it would cause needless anxiety and worry and it is best for now to just forget about it. It would be nice to know I wasn't a carrier but testing isn't done that way...

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