A Tale of Two Genes – My BRCA Journey

A Tale of Two Genes – My BRCA Journey

The prologue to my journey began when I was a teenager and my maternal great aunt was diagnosed with breast cancer. This was in the 1970’s, 20 years before the BRCA mutations were even discovered. Following my great aunt’s diagnosis, several of her eight siblings and their children also received cancer diagnoses, although my maternal grandmother and my mother never did. After genetic testing became available in the late 90’s, my surviving family members sought testing, and nearly all who had been diagnosed with cancer, found they carried the identical BRCA 2 mutation.

Fast forward to October 2011…my younger sister was diagnosed with early stage breast cancer, discovered as a result of her annual mammogram. Due to our known family history with the BRCA 2 mutation, she underwent genetic testing before deciding on a course of treatment. When her test results came back, she learned that she didn’t carry the family’s BRCA 2 mutation. Instead, she was told that she had a mutation on the BRCA 1 gene. This was a completely unexpected result. So now we were faced with BRCA 1 and BRCA 2 in the family.

As her sister, I knew that I had a 50/50 chance of carrying this same BRCA 1 mutation, so I got tested. The test showed that I too, carried the same BRCA 1 mutation. Since we were aware that my maternal family carried a BRCA 2 mutation, it reasoned that this BRCA 1 mutation was passed on by my father. I sent an email blast to my paternal cousins regarding our results, and suggested that they too consider being tested. I was met with a lot of disbelief and denial that this came through my father’s family line. There was no known history of breast or ovarian cancer in “our” family, so how could it be?

Here’s how…My father had three brothers and no sisters, thus, there was no breast or ovarian cancer in his generation*. However, my paternal grandfather and two of my uncles had all had prostate cancer which is the most common way a BRCA mutation will reveal itself in men. There is also increased risk of male breast cancer, but this is much less prevalent. As a favor to my cousins, my father underwent genetic testing which confirmed that he was the carrier. My cousins were finally willing to get tested. Genetic math says that we each have a 50/50 chance of inheriting a specific gene from our mother or our father, which in my case, meant a functioning gene or a mutated gene. On my paternal side of the family, we won the jackpot and as far as I know, 100% of us who have been tested carry the mutated gene.

I had already made the decision that if I was found to be BRCA+, that I would have the two risk-reducing surgeries available to me, removal of my ovaries and fallopian tubes and a double mastectomy. I also had a hysterectomy since I was past my child-bearing years. These were very easy decisions for me to make, but this isn’t the case for everyone in this situation. I have cousins on my mother’s side who are BRCA 2+ and also lost a sister to ovarian cancer, who have chosen to have had their ovaries, etc. removed, but undergo rigorous breast cancer screening, rather than mastectomy surgery. These decisions are both personal and individual, which is a big reason why I’m so proud to become a Sharsheret peer supporter to be there for others wrestling with these decisions. 

I have been very fortunate in that, so far, I have not received a cancer diagnosis. This was not the case for my sister or a cousin who was diagnosed with Stage 3 breast cancer before she chose to get tested. It’s for this reason that I would make the same surgical decisions all over again.

For me, genetic testing was a gift. It gave me the incredible opportunity to get in front of and hopefully dodge a breast or ovarian cancer diagnosis, a chance that so many women do not or have not had. I strongly encourage women and men to consider your family’s cancer history and if you see patterns, seek out genetic testing.  Knowing or not knowing, doesn’t change what is.

*It’s important to remember that men may also be diagnosed with cancer related to BRCA1 or BRCA2 mutations,  but it happens more rarely in men than in women.  Men may have an increased risk of prostate, male breast, melanoma, or pancreatic cancer.