Guess who's BRCA?


I had never heard of the BRCA mutation before my gynecologist brought it up at my annual appointment in 2016. Years before that appointment, I had listed in my chart that I had lost my mother to breast cancer, but in 2016 I added that I had recently lost a cousin to ovarian cancer. My doctor told me about a blood test that looks for inherited genetic mutations that would make me more likely to get cancer. She said I was considered high risk because of my mom and cousin. Of course I approved the test. I had no idea what I was in for.

Ignorance is bliss. That is so incredibly true. My adult years before getting my results now look like a cakewalk. I was a normal 28 year old, with typical plans. I wanted to buy a home, to travel the world. All of that sort of disappeared, bumped to the bottom of my priority list when my results came back positive. I couldn't help but become obsessed with the fact that I would someday have cancer. I needed to make plans for preventive surgeries, I needed to change my diet, exercise more. I had so many plans. Ignorance would have been bliss. But, if I hadn't had that test and hadn't started the screenings, I wouldn't have known about my breast cancer until it was much farther along. But I'm getting ahead of myself, right now I'm talking about the test that started it all.

Below you can read some of the results from the test. You will probably understand why I developed anxiety after getting these results.

Hereditary Cancer Genetic Result:
BRCA 2: Heterozygous. (This means I have inherited the mutated gene.)
Clinical significance: High cancer risk.
High risk: female breast, ovarian, pancreatic cancers
Elevated risk: melanoma

The percentages:
  Chances of getting breast cancer:   28% by age 50     84% by age 70
  General population:                       1.9% by age 50    7.3% by age 70

  Chances of getting ovarian cancer:  27% by age 70
  General population:                        0.7% by age 70

  Chances of pancreatic cancer: 7%
  General population:                 1%

The only thing I could say when my gynecologist gave me the diagnosis and showed me these numbers...
"F**k."

The test analyzed 25 different "inherited cancer" genes. My results showed I was positive for one mutation, the BRCA2 mutation. I don't know if my mom ever had a test like this, or if it was even around when she was diagnosed. It would seem pretty obvious though that I likely inherited the gene from her. My information pack also lists this diagnosis as being called Hereditary Breast and Ovarian Cancer Syndrome (HBOC), although I've never heard any of my doctors refer to it as that.

There are two different types of BRCA mutation, 1 and 2. In conversation, you wouldn't spell out the letters. Instead, you say "brack two". I don't know who decided to pronounce it that way, but there it is. BRCA stands for BReast CAncer susceptibility gene. It's not a perfect abbreviation and doesn't encompass the other cancer risks, but abbreviations in the medical field are often tricky things. Technically, every body has these genes. They are tumor suppressor genes. Tumor suppressor genes produce proteins that help the body find cells that may form cancer and kill them. A person who is BRCA2 positive has a mutation in that gene. It can no longer produce those protective proteins, so cancer cells are going to be missed. It is a major gap in the body's defense against cancer.

Science hasn't yet come up with a gene therapy that can fix this. In the meantime, people like me have to go through some major mental and physical trauma in the hopes of staying alive. It is like the Hunger Games in my body, except all the other tributes are cancer, and the odds are definitely not in my favor.

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