Genomic ascertainment of <i>CHEK2</i>-related cancer predisposition.

ABSTRACT:

Purpose

There is clear evidence that deleterious germline variants in CHEK2 increases risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers. Genomic ascertainment was used to quantify cancer risk in CHEK2 germline pathogenic variant heterozygotes.

Patients and methods

Germline CHEK2 variants were extracted from two exome-sequenced biobanks linked to the electronic health record: UK Biobank (n= 469,765) and Geisinger MyCode (n=170,503). Variants were classified as per American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) criteria. Heterozygotes harbored a CHEK2 pathogenic/likely pathogenic (P/LP) variant; controls harbored benign/likely benign CHEK2 varia

SUBMITTER: Kim SY 

PROVIDER: S-EPMC11451703 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature