Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development-Reference-Cited by-同舟云学术

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

Published:2023-01-21 Issue:2 Volume:14 Page:280
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Nurgalieva Alfiia¹^ORCID,Galliamova Lilia¹,Ekomasova Natalia¹,Yankina Maria²,Sakaeva Dina³,Valiev Ruslan¹,Prokofyeva Darya¹,Dzhaubermezov Murat¹,Fedorova Yuliya¹,Khusnutdinov Shamil³,Khusnutdinova Elza¹²^ORCID

Affiliation:

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.

Funder

State assignment of the Ministry of Science and Higher Education of the Russian Federation

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

https://www.mdpi.com/2073-4425/14/2/280/pdf

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