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AskMrScience t1_jbzubbi wrote

Reply to comment by newleaseonlife1 in Cancer timeline: treatment for stage 3c triple positive breast cancer (all cancers are unique, this is my personal timeline; similar diagnoses will have a similar, but not identical, timeline) [OC] by BluebellsMcGee

You're the first CHEK2 person I've met aside from my friend Debra. A few years ago, Debra went in for surgery for abdominal pain that everyone thought was an ovarian cyst and they found fucking appendix cancer. You have never heard of it because it is not a thing - it's literally "1 in a million" rare. When she told her doctors "Oh yeah, my uncle was diagnosed with appendix cancer, too", the surgeon told her to run, not walk, to a medical geneticist. Surprise, CHEK2 mutation! It explained why breast and ovarian cancer run in her family, but everyone had tested negative for the common BRCA1/2 mutations.

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newleaseonlife1 t1_jbzwfo5 wrote

My friend Katie died of her chek2 mutation at age 32. It was long and horrible and she told me that if she could go back, she'd get the surgeries. It's not as famous as BRCA but it has a range of health effects. No woman on that side of my family has lived past 50

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AskMrScience t1_jbzznvu wrote

Debra was also about 30 when diagnosed. She got lucky: if you catch appendix cancer in Stage 1 like they did for her, it's basically "snippy snippy, congrats, you're cured!" She's since had all the other recommended prophylactic surgeries and gotten her kids genetically tested.

I'm a geneticist working on cancer treatments, so this is all Relevant To My Interests. Most hereditary cancer syndromes are caused by a DNA repair or checkpoint gene being mutated (no surprise, CHEK2 = checkpoint gene). I'd think you'd be equally likely to get cancer in any tissue type with that kind of problem. But instead, there are very strong patterns to which organs the cancers tend to start in.

Hooray for being able to ID these mutations and what tends to go wrong. Now we have some clue what to watch out for in each person. And I wish you better luck going forward.

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