BRCA-1 test results

Without any fanfare or "may I have the envelope please," Dr. A. announced the results of our BRCA-1 gene tests yesterday.

After 15 weeks of waiting, we weren't surprised to learn I carry the BRCA-1 gene and my mom, as a result, is a carrier and has it too. My sister tested negative, thank God. It's the Belgian strain of the gene from my mother's side of the family.

Now Dr. A. said there's no way to be 100 per cent sure, yadda, yadda, yadda. But since I have ovarian cancer at 42 (and almost kicked its butt), I'd already assumed my test result would be positive. So no big surprise for me or my mom.

Dr. A. got all technical again yesterday talking about genes, proteins, pre-cursor lesions, etc. I understood the general gist. My cancer is serous papillary carcinoma due to loss of DNA repair. In other words, the part of my DNA related to the BRCA-1 gene is damaged, so it didn't work properly to kill off the abnormal cancer cells.

BRCA-1 and BRCA-2 genes belong to a class of gene called tumour suppressors. When they're normal, they help prevent uncontrolled cell growth. Harmful BRCA-1 mutations increase a woman’s risk of developing breast, ovarian, cervical, uterine, pancreatic and colon cancer. In men, it increases the risk of breast, pancreatic, testicular and early-onset prostate cancer.

Dr. A said the current working theory is the BRCA-1 related ovarian cancer may originate in the fallopian tube rather than the ovary. It then loosens and implants elsewhere - in my case, in the fatty lining of my stomach called the omentum.

I asked if this working scenario affected my treatment and prognosis. He said, yes, explaining this type of cancer tends to respond very well to platin-types of chemotherapy (I'm on carboplatin - which apparently is potent and one of the reasons I feel so terrible). But if it works to kill those nasty cancer cells, I'm all for it.

The good news is the prognosis for BRCA-1 gene-related ovarian cancer is better than the typical ovarian cancer. Yippee! In addition, I may qualify for a clinical trial studying a means of replacing the damaged gene in the DNA to prevent cancer reoccurence called a PARP inhibitor. Apparently, the PARP inhibitors have few side effects. So now I need to talk to Dr. P. about getting me into the clinical trial.

I learned an interesting statistic from Dr. A yesterday. Apparently, only three per cent of those who develop breast cancer and 10 per cent of those with ovarian cancer carry the BRCA-1 or -2 gene.

According to some research I did on the National Cancer Institute's (www.cancer.gov/cancertopics/factsheet/risk/brca) website this morning, having the BRCA-1 gene increases the risk of contracting ovarian or breast cancer exponentially. The lifetime risk for a woman in the general population to develop breast cancer is 12 per cent, while those who inherit the harmful mutation have a 60 per cent risk (Dr. A. said 50 to 90 per cent). The risk is cut in half for women who undergo the bilateral salpingo-oopherectomy (removal of ovaries and fallopian tubes - which I had, and then some).

For ovarian cancer, women have a 1.4 per cent lifetime risk of contracting the disease, while for those with the BRCA-1 or BRCA-2 mutation, it increases to 15 to 40 per cent.

Since my mom is a carrier (but luckily hasn't developed cancer), she's going to discuss possible preventative measures she can take (bilateral salpino-oopherectomy, bi-lateral mastectomy, screening measures, etc.) with a gynaecologist and a breast specialist. I will also meet with the breast specialist to discuss my risks and options. The answer may be more/better screening or more drastic preventative measures.

Angie, even though she tested negative, will still meet with a gynaecologist and breast specialist so she can undergo the necessary screening. Like she said yesterday, she's lucky because she tested negative for the gene but still qualifies for the precautionary screening.

As for my kids, they'll need to be tested 10 years prior to any evidence of disease appearing in our family. So at 24 years old, they'll need to undergo the BRCA-1 screening. But with all the research, medical breakthroughs and technology, researchers may have discovered a cure or a better way to prevent the gene-related cancers from developing by the time they're ready for testing. I pray to God that's true.

So, in short, having this gene sucks. But the good news is it seems to respond well to treatment, we're now aware we have it so we can have the necessary screening to try to catch any evidence of disease and, best of all, lots of research is being conducted on this topic. So, the chances of discovering new and better ways of treating and preventing cancers caused by this gene mutation are good.

In the meantime, I'll keep fighting my cancer, try to get into the PARP inhibitor clinical trial and pray.

Tina