Article
Genomic Ascertainment of CHEK2-Related Cancer Predisposition.
JAMA network open - 1 Dec 2025
Kim Sun Young, Kim Jung, Ramos Mark, Haley Jeremy, Smelser Diane, Rao H Shanker, Mirshahi Uyenlinh L, Nathanson Katherine L, Graubard Barry I, Katki Hormuzd A, Carey David, Stewart Douglas R
Abstract excerpt
Importance: There is clear evidence that deleterious germline variants in CHEK2 increase risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers. Objective: To quantify the prevalence of as well as cancer risk and survival associated with CHEK2 germline pathogenic and likely pathogenic variants using genomic ascertainment. Design, Setting, and Participants: This...
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