Monday, August 5, 2013

Please Send 'Negative' Thoughts

Channeling all my ‘negative’ thought.

Tomorrow afternoon we sit down with a genetic counselor and a psychologist for the big BRCA reveal.

Four weeks ago, I donated a vial of blood so a lab could determine whether or not I carry a mutation in either the BRCA1 or BRCA2 gene. A few months ago I may have had to explain genetic testing in gory detail but, thanks to the very public conversation that Angelina Jolie’s positive test result and ensuing prophylactic double mastectomy initiated, there is a good chance everyone now knows that the BRCA1/2 genes have been identified as tumor suppressor genes and that mutations in those tumor suppressor genes can prevent them from doing their job effectively.

In my own break-it-down-so-I-can-understand words:
Normal cells replicate. Normal cells can sometimes mess up their genetic code when replicating. This mess-up is considered a defect. Tumor suppressor genes are designed to clean up these imperfections. Without effective tumor suppressor genes, flaws proliferate. As these defects amass, tumors can form. This is bad.
Geneticists worldwide would now be poking their eyes out at my oversimplification.

Anyway, test wise, a positive BRCA1 and/or BRCA2 result would indicate a higher average risk of developing breast cancer.

But that’s not all.

In addition to breast cancer, mutations in the BRCA1 and BRCA2 genes can also increase the risk of several other types of cancer.
·        BRCA1: fallopian tube cancer and pancreatic cancer;
·        BRCA2 : ovarian cancer, fallopian tube cancer, prostate cancer, pancreatic cancer and skin cancer (specifically melanoma).

So tomorrow I find out.


If I’m positive for mutations in either gene, there are decisions that need to be made. 
If I’m negative for mutations in both genes, I’ll be taking a deep breath and trying to put a bow on what will be forever known as ‘worst summer ever’ according to my family.

Either way, tomorrow is significant so, if you’ve got any negativity to share, please send a few ‘negative’ thoughts my way.