On Friday, May 22, two weeks after I was supposed to receive the results, just before leaving the office to come home for our Memorial Day weekend plans, I got a call from the genetic counselor. She had the test results. I tested positive for a very rare gene mutation, CDH1.
I learned from the genetic counselors and from doing my own research online, this gene mutation has a 39-52% (I've seen as high as 60%) risk for lobular breast cancer. Interestingly enough, what I had was ductal breast cancer, so what I had may or may not actually have been caused by this gene, but the risk is still there of future breast cancers. The scarier part is the 80% risk of Hereditary Diffuse Gastric Cancer (ie stomach cancer) by the age of 80. What makes HDGC even scarier is that it develops in the lining of the stomach and is undetectable by any early screening methods. The only recommended course of treatment is to have a prophylactic total gastrectomy (removal of the stomach as a preventative measure).
All of this was a lot of info to take in. Even though I eventually would have to make a decision about the stomach cancer risk, the immediate question on the table was what to do about the breast cancer. After thinking about it, talking with the genetic counselor, the breast surgeon, the reconstructive surgeon and the medical oncologist (all in a short Memorial Day week), we decided to go ahead and do a double mastectomy on June 18. By having the mastectomy, there was no need for either radiation or chemo.