"Any other CHEK2 folks out there? I just received some interesting news.
"I was diagnosed at age 48 with ductal cancer in my left breast, ER/PR+ and HER2-. I have dense breasts, and my mammogram missed the cancer. I found it myself doing a self-exam -- I noticed dimpling when I lifted my arms above my head. 2.3 cm, negative nodes. I have an extensive cancer history on my father's side; we have long suspected some kind of hereditary cancer, but didn't think it was BRCA, because no one has ever had ovarian cancer. However, lots of cancer: breast (two aunts, two great-aunts), colon (aunt and uncle), prostate (two cousins), kidney (uncle, cousin), and a smattering of others (dad had laryngeal). I was the third generation of women to be diagnosed with breast cancer in our 40s.
"I had BRCA testing right away to decide whether to have a double mastectomy or not. (Because of the location and size of my tumor, plus a family history of cardiac disease, I was advised by several surgeons to have a mastectomy rather than a lumpectomy.) My insurance covered the testing, and it was negative. So I proceeded with the single mastectomy, and because of my low Oncotype DX score, avoided radiation and chemo.
"I later read about the expanded gene panels, and that Color Genomics was of good quality and offered an inexpensive multi-gene assay. I had that done, and all of the genes were negative for mutations, except one: CHEK2. I had a mutation 'of unknown significance,' not the one most commonly associated with breast cancer.
"That was two years ago. Last week, I received an email from Color asking me to speak to a genetics counselor because my results had been updated. They have now changed my mutation to 'likely pathogenic,' and that has made my sons and siblings eligible for the family testing program (only $50!). Most are getting tested because of the low cost. However, I am still not sure how high risk this mutation is. There is not a ton of supporting evidence in the research literature. It was the gene I always suspected, because it so closely matches our family history. However, this result does have the potential for changing our screening schedule. I will get colonoscopies every 5 years, and consider MRI or ultrasound for screening my healthy breast. My sons will want to consult with their doctor about the implications for prostate cancer screening. Anyone with a daughter who has the mutation will want them tested also, I think.
"Even though I and my siblings have always believed we had a hereditary multi-cancer history, it still is strange having an actual mutation and gene identified. I am glad I got the testing, and I believe I will probably learn more in the future about my mutation as more research occurs."
-- pzercher, tested positive for the CHEK2 genetic mutation