Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.

ABSTRACT:

Importance

Germline CHEK2 pathogenic variants (PVs) are frequently detected by multigene cancer panel testing (MGPT), but our understanding of PVs beyond c.1100del has been limited.

Objective

To compare cancer phenotypes of frequent CHEK2 PVs individually and collectively by variant type.

Design, setting, and participants

This retrospective cohort study was carried out in a single diagnostic testing laboratory from 2012 to 2019. Overall, 3783 participants with CHEK2 PVs identified via MGPT were included. Medical histories of cancer in participants with frequent PVs, negative MGPT (wild type), loss-of-function (LOF), and missense were compared.

Main outcomes and measures

Participants were stratified by CHEK2 PV type. Descriptive statistics were summarized includ

SUBMITTER: Bychkovsky BL 

PROVIDER: S-EPMC9501803 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature