Pathogenic germline variants among women with uterine cancer by ancestry: A commercial laboratory collaborative research registry study.

ABSTRACT:

Objective

Uterine cancer (UC) is the most common gynecologic cancer in the United States, and 5-15 % of patients harbor a germline pathogenic variant (gPV) in a cancer predisposition gene. This study aims to characterize the germline landscape of patients with UC by self-identified ancestry.

Methods

Patients with UC who received germline testing were identified from the publicly available Myriad Collaborative Research Registry. Rates of gPVs were calculated, overall and by self-reported ancestry, with a focus on genes associated with UC, including Lynch syndrome (LS) and homologous recombination-related (HR) genes.

Results

Among 35,310 patients with UC, 23,081 (65.4 %) identified as White, 3683 (10.4 %) as Hispanic, 2132 (6.0 %) as Black, 1244 (3.5 %) as Ashkenazi Jew

SUBMITTER: Johnson CR 

PROVIDER: S-EPMC12836400 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature