"There is cancer, cancer, cancer on both sides of my family. My sister, my mother's sister, my mother's aunt, all had breast cancer. My mother's aunt had it at age 24, her sister at 47. My father's side is just eat up with colon cancer, although my father's mother had breast cancer and other cancers. I was urged by my breast surgeon to have genetic testing done.
"Initially, it looked like everything was okay: negative BRCA1 and 2. But then 2 weeks later the other big panel revealed positive PALB2 (the pathway to BRCA2) and CHEK2 mutations. At the time, the counselor estimated my lifetime risk for breast cancer at around 45%, which is similar to BRCA2, but without the ovarian cancer component. Unfortunately, we didn't find all this out until after my lumpectomies.
"The first thing my MO said (after she said I needed chemo, that is) was, 'Why have you NOT had a bilateral mastectomy already?!' As she explained to me, should I choose the surveillance route, it will mean a life of testing, biopsies, and waiting for the other shoe to drop. The positive gene mutations change everything. So, sometime after my chemo is done, I'll be having a bilateral mastectomy. Radiation is still a possibility, as well.
"My health insurance picked [the testing] up.
"Since each of my kids has a 50% chance of having inherited the bad genes, I shared my results with them. They both want to be tested and I will pay out-of-pocket for that because their insurance is crappy. I also shared my results with my siblings, who also have a 50% chance of having the bad genes.
"As a result of this testing, I was prompted to work up a thorough family tree by talking with four of my elders, two on mom's side, two on dad's side, and three cousins on my mom's side. I finally finished the family tree last night and was horrified to find that there are 20 cases of cancer on my father's side, 7 on my mother's side, and 5 within my own family of origin. That's a grand total of 32 cases of cancer in my 1st & 2nd degree relatives! Holy cow!
"Pay attention to your family tree. Talk to your elders about cancer. One of the things that I found frustrating is that some of the older women in the family never spoke about their cancer, other than to say it was 'female cancer,' whatever that is. I uncovered one case of male breast cancer in a cousin that I never heard of. Back in the day, people didn't talk about cancer like they do today. I was utterly shocked by my research into my family tree!
"Now that I know even more about my family cancer history I plan to call the genetics counselor in the morning. She may need to re-run my statistics, or at least make a note of my new findings."
-- mustlovepoodles, tested positive for PALB2 and CHEK2 genetic mutations