Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

ABSTRACT:

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 case-control study used 2 electronic health record-linked and exome-sequenced biobanks: UK Biobank (n = 469 765) and Geisinger MyCode (adults only; n = 167 050). Variants were classified according to American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria. Cases were defined as individuals with heterozygous CHEK2, harboring pa

SUBMITTER: Kim SY 

PROVIDER: S-EPMC12706675 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature