[2021-08-24] Inherited faulty gene

With my mom's blessing and encouragement, I am sharing the results of her genetic testing, which she received today. She does not carry the BRCA2 gene change that I do. That means that I inherited my faulty BRCA2 gene from my father.

This fact illustrates a point I've made in previous posts (here, here and here), namely that the BRCA2 gene change affects not just women but men too. Men who carry the BRCA2 gene change are at a higher risk of developing prostate cancer and breast cancer. Moreover, they can pass the gene change on to their children, as occurred in my case. Carriers of the BRCA2 gene change—both male and female—also face a slightly higher risk of pancreatic cancer and melanoma. And, of course, the risk of ovarian cancer increases significantly in people who are BRCA2 positive.

For me, knowledge is power. While I can't change the fact that I inherited a faulty BRCA2 gene or that I developed ovarian cancer, I can take action to reduce my risks of developing other cancers, most notably breast cancer. And the genetic testing I chose to undergo opened the door for family members to seek their own genetic testing, which will arm them with knowledge to help protect their health and that of their children.

That said, it can be difficult to undergo genetic testing. Beyond the counseling appointments and the blood test, there is the worry that comes before the test, while waiting for the results and after getting the results, regardless of whether or not a genetic change is found. While a positive result (having the gene change) can bring new concerns, a negative result (not having the gene change) can bring a sense of guilt, especially if some family members are positive and others are negative. Consequently, some people choose not to know.

But that's not me. Notwithstanding the challenges, I choose to know. And I choose to share what I know because I believe that it could help someone else. I appreciate my mom's willingness to pass along her results, which will be of interest to relatives on both my mom's side of the family and my father's.

This quote by Robert Boyce sums up well the value of sharing: "Knowledge is power. Knowledge shared is power multiplied."