Pathogenic germline variants in patients with endometrial cancer of diverse ancestry.

ABSTRACT:

Background

Racial disparities in outcomes exist in endometrial cancer (EC). The contribution of ancestry-based variations in germline pathogenic variants (gPVs) is unknown.

Methods

Germline assessment of ≥76 cancer predisposition genes was performed in patients with EC undergoing tumor-normal Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets sequencing from January 1, 2015 through June 30, 2021. Self-reported race/ethnicity and Ashkenazi Jewish ancestry data classified patients into groups. Genetic ancestry was inferred from Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets. Rates of gPV and genetic counseling were compared by ancestry.

Results

Among 1625 patients with EC,

SUBMITTER: Liu YL 

PROVIDER: S-EPMC10922155 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature