Another boring technical post...

Ok, here's the details of my meeting with the genetics counselor...

First of all, my reason for deciding to go the genetic testing route was mainly to glean a bit more information before making decisions about future treatments, namely Tamoxifen. Tamoxifen is a drug that they would put me on after the finish of chemotherapy for 5 years to prevent recurrence of (mainly) the breast cancer, but also to prevent recurrence of any other estrogen receptor cancer in my body. It has serious side effects, though as it works by blocking your bodies ability to absorb estrogen, effectively putting your body into menopause. It also increases your risk of ovarian cancer, which is where the genetic testing comes in.

If I tested positive for one of the 2 known breast cancer mutations, both of those also come with a greatly increased risk of ovarian cancer, about 60% (as well as a slightly increased risk of colon and pancreatic cancer, but those are much lower). At this point, I am planning on having the preventative mastectomy and decreasing my chances of recurrence that way rather than taking the Tamoxifen. I don't fancy the idea of anything that messes so severely with my hormones; also I still want to maintain fertility for as long as possible. And who needs hot flashes at age 33? Sheesh.

According to the genetics counselor, my chances of having the genetic mutation based on my medical background and family history is very low, about 6% that I would test positive. In fact, they were debating whether or not I was even a candidate for the test. In the end, they decided to go ahead with it as I am so young, and also because there have been very few females in the more recent generations on my father side (he comes from a family of 3 boys and his brother had 3 boys and one daughter).

The meeting was fine, although some of the mandatory questions they ask made me want to roll my eyes sometimes. For instance "If you test positive, that will mean it came from one of your parents (duh!)- how will this effect your relationship with that parent? Oh, come on- they gave me my premature gray hair, I think I can cope. But I guess they have to ask these things...

One piece of information that I found interesting was this. They are not testing for a breast cancer gene, as I previously thought. They have located 2 genes which are tumor suppressors; within those genes they have located certain mutations which impair the genes ability to do their job in suppressing tumor growth. Cancer is a two hit process- having the BRCA gene is not in itself enough to cause cancer; there needs to be something that spurs the cells to begin growing rapidly and then you develop cancer when your body can't control the growth. So when someone young comes in with cancer, they immediately suspect a genetic cause- that you already started the game with one hit against you, namely the genetic predisposition.

So the test results can come out negative (I do not have BRCA 1 or 2) positive (I do have one of them) or indeterminate (they found an abnormality on the genes that they do not know the cause of, or whether it means an increased risk of cancer. Not all abnormailities on the genes are bad).

Okay, this concludes another boring technical post.