Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development

Nurgalieva, A.; Galliamova, L.; Ekomasova, N.; Yankina, M.; Sakaeva, D.; Valiev, R.; Prokofyeva, D.; Dzhaubermezov, M.; Fedorova, Y.; Khusnutdinov, S.; Khusnutdinova, E.

Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development

Nurgalieva, A., Galliamova, L., Ekomasova, N., Yankina, M., Sakaeva, D., Valiev, R., Prokofyeva, D., Dzhaubermezov, M., Fedorova, Y., Khusnutdinov, S., Khusnutdinova, E.

Publication date: 2023

DOI: 10.3390/genes14020280

Abstract:

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 CDH1 gene and c.27_28insCCCAGCCCCAGCTACCA (p.Ala9fs) of the VEGFA gene were found only in the tumor tissue, whereas c.G1874C (p.Cys625Ser) in the FANCA 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.

Keywords:
gastric cancer, whole exome sequencing, germline mutations, somatic mutations, pathogenic variant, Web of Science, Scopus

Издатель: MDPI

Тип: Article

Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development

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