Genetic testing...does anyone have the CHEK2 gene mutation

Posted by sandyjr @sandyjr, Sep 17, 2019

I have had bilateral breast cancer. According to my genetic test, I do not have the BRAC1 or BRAC2 mutation…I have the very rare CHEK 2 mutation. Has anyone had this mutation? If so, what was your plan of action?


This is interesting. Where are you finding your information on CHEK2? I have tried to find out more about the mutation but have not been very successful. I was not told anything about radiation causing cancer if a person has this mutation. My mutation is p.R137*. I sure would like to find more information about it. The genetic counselor did not specify anything other than it increases my chance of getting breast and colon cancer. How do I find understandable information about this.

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@sandyjr, I've been using Google and internet searches. But you're right. Most of the information comes from research studies and journals. There's not much info in layman's language unfortunately. The link in my post above is pretty comprehensive and not too hard to understand, not easy, but not too hard.

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@shelleyc, am I understanding you correctly that radiation has been recommended for you? The role of radiation and CHEK2 is confusing. From what I understand (I'm not an oncologist), having radiation when someone has a germline mutations like BRCA1, BRCA2, CHEK2 and ATM may increase the risk of radiation-induced breast cancer. But if you get breast cancer, radiation treatment is still a viable treatment option. See this article:
– How to Manage Patients With Moderate-Risk Germline Mutations
"Regarding local treatment, there is no evidence that any of the mutations other than TP53 should prevent a woman from having breast-conserving therapy that includes radiation."

I understand your concern and suggest you to ask your oncologist about it. I'd like to learn what you find out.

@tcennoc3303 Did you have radiation? I assume you're finished now. How are you doing?

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No I did not have breast radiation yet because I think someone at MDAnderson needs to take a look at all of the information. I did have radiation RAI131 for the thyroid cancer. I feel like this radiation tipped the scales and that is why I am seeing the breast cancer. If I had never had that I would not be as concerned about doing more radiation. It also seems like some people with this Gene saw a second cancer within 10 years in the other breast. Even without this gene it seems that scatter radiation can do that. I just do not want to get 5 years down the road and be told I have another more serious breast cancer. Right now I have had two very treatable cancers. The next time I might not be so lucky.

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