Pathogenic variants (disease-causing) in the CHEK2 gene are associated with a moderate increase in cancer risk, most notably breast cancer in women. Pathogenic variants in CHEK2 mutations may also increase risks for prostate, kidney and thyroid cancers, though the strength of these associations varies. Management of CHEK2–related tumor risk includes regular surveillance tailored to guidelines to detect tumors early as well as risk-reducing strategies (surgeries and medications). CHEK2 variants are not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants in CHEK2 exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
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Written December 2025
