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Dec 31, 2020 09:01AM
Hi everyone, I also have a CHEK2 mutation. Mine is c.1100delC, which did not change my treatment plan. Most of what I have learned is similar to what has already been mentioned. Namely, that we have twice the risk of breast and colon cancer from the rest of the population, and therefore need better screening (breast - alternating mammo with MRI every 6 months; colon - colonoscopies starting at 40 and done every 5 years instead of 10). My report says it may be linked to other cancers such as thyroid, melanoma, kidney, stomach and lymphoma, but there isn't a strong enough link to change the screening recommendations at this point. When I spoke to the genetic counselor, she said the types of cancer I've seen in my family are likely the ones I will be at higher risk for.
By process of elimination, this came from my dad's side. Breast and pancreatic cancer in my mom's family prompted genetic testing, so we know she is negative for this mutation (although I don't know what additional risk I get from her side of the family). Thankfully, my dad remains cancer-free at 69. His mother had both breast and colon cancer, but not until her late 70s/early 80s. One of his brothers had non-hodgkins lymphoma in his 30s, another has had melanoma and prostate cancer, both in his 70s, and my dad's third brother, like my dad, has never had cancer.
I notified all members of that side of the family and don't know how many of them have been tested. My brother's test results are pending and I'm really hoping he doesn't have it.
Prior to learning of my breast cancer diagnosis (and CHEK2 mutation) I'd been monitoring two subcentimeter thyroid nodules for several years now. The current recommendation is that they don't biopsy anything less than a centimeter, especially when they aren't growing. Upon learning of my CHEK2 mutation, I asked if that changed the recommendation and was told it does not, but I could biopsy if I wanted to. Since they've remained stable, and I had my hands pretty full with breast cancer treatment all year, I have chosen not to. But that might change now that I'm settling into the endocrine therapy leg of this marathon.
I'd love to stay connected with other people who have this mutation and share any new information we learn. Thank you everyone for sharing, and I'm happy to answer any additional questions about my own situation.
Diagnosed at 42 - Oncotype 24; CHEK2 mutation
2/2020, IDC, Right, 1cm, Stage IIA, Grade 2, 1/5 nodes, ER+/PR+, HER2- (FISH)
3/18/2020 Lumpectomy: Right; Lymph node removal: Sentinel
4/17/2020 Abraxane (albumin-bound or nab-paclitaxel), Cytoxan (cyclophosphamide)
7/7/2020 Arimidex (anastrozole), Zoladex (goserelin)
7/13/2020 Whole-breast: Breast, Lymph nodes
8/17/2020 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)