Comprehensive analysis of germline drivers in endometrial cancer.

ABSTRACT:

Background

We sought to determine the prevalence of germline pathogenic variants (gPVs) in unselected patients with endometrial cancer (EC), define biallelic gPVs within tumors, and describe their associations with clinicopathologic features.

Methods

Germline assessment of at least 76 cancer predisposition genes was performed in patients with EC undergoing clinical tumor-normal Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) sequencing from January 1, 2015, to June 30, 2021. In patients with gPVs, biallelic alterations in ECs were identified through analysis of loss of heterozygosity and somatic PVs. Clinicopathologic variables were compared using nonparametric tests.

Results

Of 1625 patients with EC, 216 (13%) had gPVs

SUBMITTER: Gordhandas S 

PROVIDER: S-EPMC10165491 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature