Some Intense and Standardized Stomach Cancer Disease Indicators in the Kyrgyz Republic

Toigonbekov, A.; Akhunbaev, Stalbek; Umetov, M.; Tumanbaev, A.M.

doi:10.33619/2414-2948/56/20

Cited by 2 publications

(1 citation statement)

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“…In the structure of mortality from oncological diseases, GC ranks first (10.0‱). Low rates of early diagnosis (17.6%) of GC, high degree of neglect (35.3%) and increased one-year mortality (81.7%) have also been noted in the article by Toigonbekov et al [5]. According to the World Health Organization, in 2020, 1027 new cases of GC were detected in Kyrgyzstan, which is 14.5% of the total number of all cancer cases [6].…”

Section: Introductionmentioning

confidence: 98%

The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic

Bilyalov,

Nikolaev,

Danishevich

et al. 2023

CIMB

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Gastric cancer is a major challenge in modern oncology due to its high detection rate and prevalence. While sporadic cases make up the majority of gastric cancer, hereditary gastric cancer is caused by germline mutations in several genes linked to different syndromes. Thus, identifying hereditary forms of gastric cancer is considered crucial globally. A survey study using NGS-based analysis was conducted to determine the frequency of different types of hereditary gastric cancer in the yet-unstudied Kyrgyz population. The study cohort included 113 patients with diagnosed gastric cancer from Kyrgyzstan. The age of patients was 57.6 ± 8.9. Next-generation sequencing analysis of genomic DNA was performed using a custom Roche NimbleGen enrichment panel. The results showed that 6.2% (7/113) of the patients had pathogenic or likely pathogenic genetic variants. Additionally, 3.5% (4/113) of the patients carried heterozygous pathogenic/likely pathogenic variants in high penetrance genes, such as TP53, POLD1, RET, and BRCA2. Moreover, 2.7% (3/113) of the patients carried heterozygous mutations in genes linked to autosomal recessive conditions, specifically PALB2, FANCA, and FANCD2. We have not identified any genetic variants in hereditary GC-associated genes: CDH1, STK11, SMAD4, BMPRIA, APC, MLH1, and others. Our study included patients with sporadic features of GC. The use of recognized criteria (NCCN, Gastric Cancer, Version 2.2022) would increase the number of identified genetic variants in hereditary GC-associated genes. Further research is required to determine the clinical relevance of the genetic variants identified in the current study.

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Section: Introductionmentioning

confidence: 98%