CHEK2 genetic mutation and thyroid cancer

Posted by sandyjr @sandyjr, Aug 4, 2022

Due to having breast cancer twice, I have found that I have a CHEK2 genetic mutation. I was told that CHEK2 is rare and is associated with breast and colon cancer. My sister has the same CHEK2 component and her doctor told her that can cause thyroid cancer. There has been no mention of thyroid cancer to me. I am going to mention it to my doctors during my upcoming appointments with the oncologist and PCP. I am curious as to how many people have had thyroid cancer with this genetic mutation.

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Hi @sandyjr
I found numerous study articles online regarding the connection between CHEK2 and thyroid cancer, specifically papillary thryroid carcinoma. I'm sure you're looked into these already, but for others who may be interested, I'll post 2 relevant studies.

– CHEK2 mutations and the risk of papillary thyroid cancer (2015)
– Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma (2021)

I think you'll be intested in the findings of the first study (which please note was very small, only 11 women).
"A CHEK2 mutation was found in seven of 11 women (63%) with multiple primary cancers of the breast and thyroid (OR = 10; p = 0.0004). These results suggest that CHEK2 mutations predispose to thyroid cancer, familial aggregations of breast and thyroid cancer and to double primary cancers of the breast and thyroid.

The second study conducted on 1547 patients from a single center in Poland found:
"Neither the truncating nor the missense mutations were associated with worse primary treatment response and outcome of the disease."

I think you are wise to tell your doctor about the potential link to papillary thyroid cancer. There are no screening tests for thyroid cancer like there are for breast and colon cancer unfortunately. This Mayo Clinic info states
"Adults and children with an inherited gene that increases the risk of medullary thyroid cancer may consider thyroid surgery to prevent cancer (prophylactic thyroidectomy). Discuss your options with a genetic counselor who can explain your risk of thyroid cancer and your treatment options." Read more here:


I have had thyroid cancer and have been diagnosed with thyroid cancer.

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