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

Alfiia Nurgalieva; Lilia Galliamova; Natalia Ekomasova; Maria Yankina; Dina Sakaeva; Ruslan Valiev; Darya Prokofyeva; Murat Dzhaubermezov; Yuliya Fedorova; Shamil Khusnutdinov; Elza Khusnutdinova

doi:10.3390/genes14020280

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

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

Affiliations

¹ Federal State Budgetary Educational Institution of Higher Education, Ufa University of Science and Technology, 450076 Ufa, Russia.
² Institute of Biochemistry and Genetics, Ufa Federal Research Center of the Russian Academy of Sciences, 450054 Ufa, Russia.
³ Federal State Educational Institution of Higher Education, Bashkir State Medical University, 450008 Ufa, Russia.

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; germline mutations; pathogenic variants; somatic mutations; whole exome sequencing.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Antigens, CD
Cadherins / genetics
Exome Sequencing
Fanconi Anemia Complementation Group A Protein / genetics
Fanconi Anemia*
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Stomach Neoplasms* / genetics
Vascular Endothelial Growth Factor A / genetics

Substances

FANCA protein, human
Fanconi Anemia Complementation Group A Protein
VEGFA protein, human
Vascular Endothelial Growth Factor A
CDH1 protein, human
Antigens, CD
Cadherins

Grants and funding

Whole exome sequencing, bioinformatic analysis have been supported by State Assignment of the Ministry of Science and Higher Education of Russian Federation No. 075-03-2021-193/5.