A Comprehensive Review of Genetic Mutations Occurring in the Development and Progression of Gastric Cancer.

[BACKGROUND] Gastric cancer (GC), a leading cause of mortality globally, is a complex condition stemming from various factors including unhealthy lifestyle habits, genetic mutations expressed in a single nucleotide, environmental effects, and chronic Helicobacter pylori infections. The development and progression of GC are gradual over many years, with a lack of specific symptoms in early stages. This results in late diagnosis at advanced stages when the cancer is more aggressive, which in turn significantly impacts the prognosis and treatment options.

[SUMMARY] This review examines research focused on genetic mutations and mechanisms that contribute to the development and advancement of GC. We analyzed the literature on genetic mutations in GC from 1 January 2012 to 12 March 2025. These studies were derived from PubMed, Google Scholar, and the Web of Science. The following MeSH terms were used to explore these databases and to derive the relevant data: "gastric cancer" AND "stomach cancer" AND "genetic mutations" OR "genes" AND "onset" OR "development" AND "progression" OR "advancement."

[KEY MESSAGES] Our analysis revealed various genetic and molecular alterations in GC, including the overexpression of receptors and cancer-causing genes and the inactivation of tumor-suppressing genes. APC, ATM, BRCA1, BRCA2, CDH1, CDH2, MLH1, MSH2, MSH6, SMAD4, TP53, PIK3CA, and RHOA were linked to the onset and progression of GC, with CDH1 mutations emerging as the most prevalent. Identifying the genetic alterations underlying the onset and development of GC is essential, as it can enable prompt diagnosis and help establish effective preventive measures for this condition.