Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

ABSTRACT:

Backgroud

Multiple studies have identified pathogenic germline variants in cancer susceptibility genes (CSGs) in Chinese lung cancer patients; however, accurate assessment of these variants' contributions to cancer predisposition is always hampered by the absence of data on the prevalence of these variants in the general population. It is necessary to conduct a large-scale case-control study to identify CSGs that significantly increase the risk of lung cancer.

Materials and methods

We performed targeted sequencing of a CSGs panel in 1117 lung cancer patients and 16,327 controls from the general Chinese population.

Results

In comparison to controls, lung cancer patients had a considerably higher prevalence of pathogenic and likely pathogenic (P/LP) variations. Among lu

SUBMITTER: Wei B 

PROVIDER: S-EPMC10726856 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature