Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer.

ABSTRACT: The genetic cause for several families with gastric cancer (GC) aggregation is unclear, with marked relevance in early-onset patients. We aimed to identify new candidate genes involved in GC germline predisposition. Whole-exome sequencing (WES) of germline samples was performed in 20 early-onset GC patients without previous germline mutation identified. WES was also performed in nine tumor samples to analyze the somatic profile using SigProfilerExtractor tool. Sequencing germline data were filtered to select those variants with plausible pathogenicity, rare frequency and previously involved in cancer. Then, a manual filtering was performed to prioritize genes according to current knowledge and function. These genetic variants were prevalidated with Integrative Genomics Viewer 2.8.2 (IGV).

SUBMITTER: Herrera-Pariente C 

PROVIDER: S-EPMC7866206 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature