Mystery Solved: So, Dad Tested Positive For BRCA2

Three out of four of us siblings tested positive for the BRCA2 mutation. In 1997 my sister, age 40, was diagnosed with her first breast cancer. I started surveillance for breast cancer then at age 30. In 2003 I was first counseled about genetic testing, then later, in 2005 I started aggressive surveillance for both breast and ovarian cancer. My father was diagnosed with lymphoma and my sister with cervical cancer in 2007, in 2008 I was diagnosed with melanoma (had surgery but no treatment and continue surveillance 4x/year, which has caught two pre-melanomas that have been surgically removed) and the following year we lost our mom to multiple myeloma (blood cancers are unrelated to the mutation).

My continued high risk counseling suggested that we should try to identify if we carried the genetic mutation in our family and my sister was tested—positive for the BRCA2 mutation. In 2013 she experienced her second breast cancer diagnosis and I knew it was time to get tested myself.

My mom died of multiple myeloma with no signs of breast or ovarian cancers at 74. My maternal grandmother died of a heart attack in her 80s with no signs of breast or ovarian cancers. My mom’s sister is still enjoying a full life in her 80s and her two daughters in their 50s are living without either cancer. As the hereditary cancers usually show up at a younger age—my sister was 40—it seemed most certain that the BRCA2 mutation was not on mom’s side.

My genetic counselor sensed that Dad carried the mutation, but we needed confirmation. After months of waiting for an appointment and weeks of waiting for the results, my dad called with the news that he tested positive for the same BRCA2 mutation that my sister, brother and I all carry.

We don’t know if my dad’s brother carries BRCA2; he has three sons. My genetic counselor said, “It’s hiding behind the men.” This is important family history to be shared on my dad’s side. There’s no doubt, this information is difficult to receive and may arouse certain emotions among my three cousins and the children they will have to tell one day. However, because this information may have an impact on their health and the health of their extended family, I had to offer them the opportunity to benefit from the knowledge and what I have learned on my BRCA2 journey.

Gene mutations in BRCA1 and BRCA2 are hereditary, meaning they can be inherited from either parent and can be passed on to the next generation. Brothers, sisters and children (male or female) of a BRCA1 or BRCA2 carrier each have a 50% chance of inheriting the gene mutation. Any family member found to be a carrier has a 50% chance of passing this mutation on to each of their children; however, anyone who did not inherit the mutation cannot pass it on to their children.

A woman with a BRCA2 mutation has a significantly increased risk of developing breast (85% in her lifetime) and/or ovarian cancer (30% in her lifetime). Males who have BRCA2 mutations also have an increased risk for breast cancer (8% in his lifetime) as well as prostate cancer (14%). Prostate cancer is a common cancer in men, even without a mutation, and BRCA mutations may increase risk. Both men and women carriers may be at an increased risk for other cancers as well, such as melanoma (which my brother and I both had).

Through the organization FORCE, and their support groups, I was fortunate to be on the receiving end of a letter that a fellow previvor put together for her family. I adapted it to my family’s history and updated the information with data I’ve learned over the past year. I wish I didn’t have to send it.

I have no doubt that my cousins may feel scared and questioning—but this knowledge gives them a chance to be proactive about their health, a gift that many before us didn’t get to have.

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