I received the results of my first round of genetic testing today … I opted for testing (no charge to women under 60 in Ontario) to see if I carried the BRCA1 or BRCA2 gene mutations.
I won the first round of Jeopardy … or perhaps it sounds more like a Jerry Springer episode … “Lisa, you do NOT have the BRCA1/2 gene mutations!”
What does that mean in short form? It means that while I have the same type of breast cancer as Angelina Jolie’s Mom, mine was not let out of the gates by the same genetic mutation as they found in their genes. Angelina carried the mutation(s) and was therefore at higher risk for breast, ovarian and several other cancers.
If I was told this morning I was BRCA1 or BRCA2 positive, I’d be scheduling a double mastectomy and full hysterectomy to follow my chemo.
Two major and life altering surgeries I DON’T HAVE TO DO. I get to keep my breasts and ovaries, whom I love very much. My uterus … well … I fried her with endometrial ablation several years ago so no more periods and had my tubes cut and tied … so no more babies! But I wanted to keep my sex drive, TYVM.
With a negative result, my risk is no higher than “normal” … if you can call anything to do with cancer “normal”. And my son, and possibly his children if they carry our gene sequence, would not be at higher risk for those cancers, including prostate cancer (younger and more aggressive form). Mutations can be inherited from either parent and could be passed on to sons and daughters.
I do indeed feel like I won the first round of Jeopardy. While I wasn’t at high risk, based on the extensive family “cancer” history we completed, there was that small unknown. There is a wide chasm between “small risk” and “no risk“.
Or … at least I feel like I didn’t get struck by lightning. Again. Not sure if this means I should buy that lottery ticket tonight, or not. I think I will since I am feeling lucky!
It took 8 weeks for the testing to be completed on my blood panel. Since testing is a long and difficult process, they go by elimination. Now that I am not BRCA1/2+, they will retest my bloodwork for other lesser known mutations. And I can go back and ask for retesting, as new genes and gene mutations are found, for ten years.
What they know about the BRCA genes is that these genes produce a special tumour supressing protein. The proteins help repair damaged DNA and play a huge cleanup role in ensuring the quality of each cell’s genetic material. When either BRCA1 or BRCA2 are mutated (altered, damaged), the protein is either not made or not made correctly. DNA replication isn’t error free and the damage isn’t repaired if a cancerous cell is created.
The geneticist, Sherri and I had a fascinating conversation about the X and Y chromosomes. The Y chromosome – the male DNA – is small. As Dr. G* said “Next time you are on a roof top patio on a date, you can tell him that the Y chromosome is teeny tiny!” and she pushed her fingers together to indicate “really small”. All of us laughed. All the Y chromosome seems to do is induce maleness. So why have women not taken over the world? And perhaps God created Eve then created her helper Adam? The X chromosome – the female DNA – is about 10x larger and longer. We got more code.
Not only that … we females pass down Mitochondrial DNA. You get it from your mother. That is consistent across species. And it can be traced back in time … to a single mitochondrial Eve. Which it sounds like the biblical heaven, Mitochondrial Eve may have just been “survival of the fittest”. She wasn’t the first female, but her genes were survivors. And we all got them.
The things you think about when you visit the genetics guru! My appointment was a full none-stop hour long discussion … surely a female trait!
So … for now, my body parts are safe. But the fight and the testing isn’t over. Cancer is the gift that keeps on giving …
I’m thankful for the infinitesimally small things … like genes,
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