Publication date: 2025

DOI: 10.15275/rusomj.2025.0108

Background and objective — Gastric cancer (GC) is one of the most common cancers worldwide with a high mortality rate. Hereditary predisposition to GC is still not fully understood. The objective of this study was to compare the prevalence of mutations in the BRCA1 (c.68_69delAG, c.4035delA, c.5266dupC, c.3700_3704delGTAAA, c.3756_3759delGTCT, c.181T>G, c.1961delA), BRCA2 (c.5946delT), CHEK2 (c.1100delC, c.115+1G>A) and NBS1 (c.657_661delGTTTT) genes in patients with GC and healthy donors from the Volga-Ural region of Russia. Methods — The material for the study was DNA samples from 415 patients with GC and 400 healthy donors. Genomic DNA was isolated from peripheral blood lymphocytes using sequential phenol-chloroform extraction. Genotyping of mutations was performed using real-time polymerase chain reaction with DNA melt curve detection. Results — A total of 8 individuals with a heterozygous germline mutation were identified: 2 patients with GC of Bashkir and Tatar nationality had c.5266dupC in the BRCA1 gene, 1 Tatar woman with GC had c.3756_3759delGTCT in the BRCA1 gene, 2 men with GC of Russian nationality were carriers of c.657_661delGTTTT in the NBS1 gene, 2 patients with GC of Tatar and Russian nationality were carriers of c.115+1G>A in the CHEK2 gene, and 1 Tatar woman from the control group had c.181T>G in the BRCA1 gene. Conclusion — These results open up new opportunities for studying the molecular basis of GC and developing targeted treatments for patients with these mutations. Further research is needed to fully uncover the clinical potential of these findings and improve the treatment of GC in affected populations. © 2024, Russian Open Medical Journal.

Издатель: Russian Open Medical Journal

Тип: Article