" I implore you, my child; observe heaven and earth, consider all that is in them, and acknowledge that God made them out of nothing (ex nihilo), and that mankind comes into being in the same way..." 2 Maccabees 7:28

Wednesday, May 28, 2008

Brief Explanation of the genetic testing thing...

So here is a simple, layman's explanation of genetic testing for breast cancer.
They (those science guys) have located 2 breast cancer genes (really mutations on the gene) and have named them BRCA 1 and 2 (for breast cancer 1 and 2). These are 2 particularly dangerous mutations, because they are also linked to an increased risk of ovarian cancer which is harder to detect in its earliest stages. They don't automatically test everyone for the genes; only those whose profiles would suggest that their cancer is hereditary rather than environmental. In my case, although there is some cancer in my family, my young age at diagnosis is enough of a red flag to indicate the possibility of a genetic cause, although it is not absolute. So I will go in on Friday for the blood test, and it will take a minimum of 4 weeks to get any results back.

There are lots of problems with genetic testing, though. One of the biggest issues is that, although they know there are many more breast cancer genes, they have only located 2. So a negative test just means that you do not have one of the 2 known mutations, and does not necessarily mean that your cancer is not genetic. In this sense, a negative result on the gene test is not very helpful.

Not that a positive on the test is great news, either. If you test positive, statistics say you have an 85% chance of contracting breast cancer in your lifetime, and a much higher likelihood of recurrence. You are also then at greater risk of contracting other types of cancer as well. For me, this would mean having to very seriously consider the option of an uverectomy (removal of the ovaries) within the next 10 years or sooner, as well as even making it more imperative to go ahead with the second mastectomy. Even after a mastectomy you are not in the clear (especially in my case since they did not get the clear margins on removal of the tumor) but it does greatly decrease your risk of recurrence.

Another downside to genetic testing is that it doesn't really indicate anything as far as treatment goes. There isn't any preventative treatment for cancer, if you test positive for the gene you do the same as anyone else- keep getting regular screenings so that if you get it, you catch it in the earliest stages. If I test positive, my sisters will then be qualified to take the genetic test as well, if they choose. Some people just feel it increases fear without giving a person any more options than they had before, which is a conclusion I certainly can respect and understand. For me, I am leaning towards foregoing some treatment options that I will be encouraged to take, specifically a drug called Tamoxifen that decreases your chance of recurrence (though not totally) by blocking your bodies ability to absorb estrogen and putting you into menopause. Fertility is something I want to conserve for as long as possible, and I don't fancy the idea of anything that messes with the hormones. Especially since Tamoxifen increases your chances of ovarian cancer (bizarre, aint it?) I'd rather reduce my chances of recurrence by a second mastectomy than by Tamoxifen, as in the big picture a mastectomy has no untoward side effects. Taking the genetic test is just another step in deciding if this is a feasible option for my situation. The reality is that statistics are not very helpful (and really, they have already failed me once). So I just have to make the best informed decision I can and be at peace with it.

Am I boring you? I could go on and on about all that comes next... But for now it's enough to start the process of testing and see what happens. I'm at peace with that, and I'll figure everything else out later.


Anonymous said...

At the very least, it is more information than you had before, which is always useful. You seem to have a good idea of what the result means/doesn't mean. -Trinka

sheshe said...

I think I'm not exactly smart enough for this particular post! ;)

Anyway, I'm flying to Iowa tomorrow to see a friend. Guess who I plan to write love letters to while I sit in a plane for six hours?!

Uh huh. I've refrained this whole time, so I would have a lot to say during my travels.

Don't worry, C. I will write you a love letter as well. (Because I know she is reading this...)

Br. Robert, OP said...

For the record: I'm not bored. In fact, I'm very interested in all the options and what will come next. Thanks for keeping us informed!

Praying for you. But you knew that already.