Genetic heterogeneity and key driver mutations in the preneoplastic and earliest stages of gastric cancer.

ABSTRACT:

Background

Gastric cancer (GC) is the fifth-leading cause of cancer-related mortality, with a 5-year survival rate less than 20%. It develops from preneoplastic lesions to adenocarcinoma, but these early genetic alterations remain poorly understood. Therefore, we aimed to identify early genetic drivers underlying the development of preneoplastic lesions and the initiation of gastric carcinogenesis.

Methods

We characterized preneoplastic and early gastric adenocarcinoma using 48 samples from 16 Guatemalan patients, a country with a high incidence of GC. We sequenced a panel of 127 genes to identify early genetic drivers and possible actionable targets.

Results

We identified extensive genetic heterogeneity, including single nucleotide and copy number variations. After c

SUBMITTER: Marroquin-Estrada EA 

PROVIDER: S-EPMC12509836 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature