全外显子组测序研究提示、和基因对弥漫型胃癌发生的影响。

Federal State Budgetary Educational Institution of Higher Education, Ufa University of Science and Technology, 450076 Ufa, Russia.

Institute of Biochemistry and Genetics, Ufa Federal Research Center of the Russian Academy of Sciences, 450054 Ufa, Russia.

Genes (Basel). 2023 Jan 21;14(2):280. doi: 10.3390/genes14020280.

Gastric cancer (GC) is one of the most common cancer types in the world with a high mortality rate. Hereditary predisposition for GC is not fully elucidated so far. The aim of this study was identification of possible new candidate genes, associated with the increased risk of gastric cancer development. Whole exome sequencing (WES) was performed on 18 DNA samples from adenocarcinoma specimens and non-tumor-bearing healthy stomach tissue from the same patient. Three pathogenic variants were identified: c.1320+1G>A in the gene and c.27_28insCCCAGCCCCAGCTACCA (p.Ala9fs) of the gene were found only in the tumor tissue, whereas c.G1874C (p.Cys625Ser) in the gene was found in both the tumor and normal tissue. These changes were found only in patients with diffuse gastric cancer and were absent in the DNA of healthy donors.

胃癌（GC）是世界上最常见的癌症类型之一，死亡率很高。目前尚未完全阐明 GC 的遗传易感性。本研究的目的是鉴定可能与胃癌发展风险增加相关的新候选基因。对 18 个来自腺癌标本和同一患者无肿瘤胃组织的 DNA 样本进行了全外显子组测序（WES）。鉴定出三个致病性变异：仅在肿瘤组织中发现了基因中的 c.1320+1G>A 和基因中的 c.27_28insCCCAGCCCCAGCTACCA(p.Ala9fs)，而基因中的 c.G1874C(p.Cys625Ser) 则在肿瘤和正常组织中均有发现。这些变化仅在弥漫性胃癌患者中发现，而在健康供体的 DNA 中不存在。