Monday, January 17, 2011

Genetic Testing

At the beginning of December I had gone to see my Genetic Counselor (Denise) to finally pursuit the testing. Basically, there are two genes that have been found to suppress tumor development - BRCA1 and BRCA2. Obviously there is more to the story (and if you click here you can read the thrilling details) but lets just simplify it by saying that by testing to see if there is a mutation of either gene than it can be said there is an increased rick of developing breast cancer and/or ovarian cancer.

Why would I care at this point? It is more of a curiosity for me at this point. I've had 3 non-related primary tumors giving me about a 30% chance of having a mutation (no comments from the peanut gallery, please). I would have thought the risk was higher so that in itself was interesting to me. IF I ended up with a mutation the biggest issue would be to look into ovary removal
which has already been done so that is just another "fun fact" for me.

My motivation was for my kids - and, yes, this included David because there is a thought that a positive BRCA1 or BRCA2 mutation in the family could increase his chance for prostate cancer...not to mention if he has children they could be at an increased risk of breast cancer.The most urgent reason for the testing was for the girls. If I tested positive they would want to be tested AND they would need to begin screening early (10 years before my diagnosis so when they are 23). The screening for them at this young age is not the mammogram but breast MRI.

There are three basic test results: Positive for a mutation, negative for a mutation (both of which are very concrete answers) or the good old "we don't know" result...which I ended up having. The test showed something not necessarily normal but also not something ever seen before. Until the same result is found while testing others there is no way to know exactly what it means and that could happen tomorrow or never. 

I think it is pretty crazy - having three incidents of cancer at a pretty early age...no known history (I think I have some background that is pretty solid to trust in)...and no real reason. And I think 'reason' isn't really what I mean. Maybe 'insight' is a better word to use. But then again - even insight isn't going to change anything. It is what it is.