Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.

ABSTRACT:

Background

Germline mutations in numerous genes, particularly tumor suppressor genes, markedly heighten the risk of various cancers, including lung cancer, which is the leading cause of cancer-related deaths worldwide. Despite extensive research on well-known genes like BRCA1, BRCA2, and mismatch repair genes, many genetic factors contributing to cancer susceptibility remain unidentified.

Methods

This study reviewed sequencing data from 4,934 Chinese lung cancer patients. Matched white blood cell samples were sequenced using WES or gene panels to identify germline mutations. Analysis included statistical tests to compare patient demographics, clinical characteristics, and somatic mutation profiles.

Results

Among the cohort, 89 patients carried pathogenic/likely pathog

SUBMITTER: Zhou N 

PROVIDER: S-EPMC11837408 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature