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JAMA NetworkDifferences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care—Checking CHEK2

With just a few exceptions (p.I157T, p.S428F, and p.T476M), CHEK2 PVs were linked to comparable cancer phenotypes regardless of the variation type. Although CHEK2 PVs were linked to breast, kidney, and thyroid malignancies, they were not linked to colorectal cancer. The prevalent p.I157T, p.S428F, and p.T476M alleles have a weaker connection with breast cancer compared to other CHEK2 PVs and were not related with non-breast malignancies. These findings might help with genetic counseling and care for those with CHEK2 PVs.

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