Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.

ABSTRACT:

Background

Germline pathogenic variants are estimated to affect 3-5% of patients with renal cell carcinoma (RCC). The identification of patients with hereditary RCC is important for cancer screening and treatment guidance.

Methods

Whole-exome sequencing (WES) (n=69) or gene panel sequencing containing 139 genes (n=54) related to germline cancer predisposition was used to analyze germline mutations in 123 patients with RCC admitted to Department of Urology, The Third Medical Center of Chinese PLA General Hospital. Chi-square test (χ²) was used to analyze relationship between clinicopathologic parameters and germline mutations.

Results

A total of 13 (10.57%) patients carried pathogenic or likely pathogenic germline mutations in 10 cancer predisposition genes,

SUBMITTER: Feng H 

PROVIDER: S-EPMC10006011 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature