Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.

ABSTRACT:

Importance

Understanding germline and somatic status in patients with gynecologic cancers could improve risk assessment and guide therapeutic decision-making.

Objective

To evaluate the prevalence and landscape of germline pathogenic or likely pathogenic (P/LP) variants and explore whether these variants are associated with somatic phenotypes and cancer risk in unselected patients with gynecologic cancers.

Design, setting, and participants

This cross-sectional study retrospectively enrolled unselected patients in China with a gynecologic cancer, including ovarian, cervical, and endometrial, who underwent tumor-normal sequencing using a 520-gene panel from October 1, 2017, through May 31, 2021.

Exposure

Germline variants in gynecologic cancers.

Main outcomes a

SUBMITTER: Wen H 

PROVIDER: S-EPMC10391307 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature