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

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 developm...

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Autores principales: Nurgalieva, Alfiia, Galliamova, Lilia, Ekomasova, Natalia, Yankina, Maria, Sakaeva, Dina, Valiev, Ruslan, Prokofyeva, Darya, Dzhaubermezov, Murat, Fedorova, Yuliya, Khusnutdinov, Shamil, Khusnutdinova, Elza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956399/
https://www.ncbi.nlm.nih.gov/pubmed/36833207
http://dx.doi.org/10.3390/genes14020280
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author Nurgalieva, Alfiia
Galliamova, Lilia
Ekomasova, Natalia
Yankina, Maria
Sakaeva, Dina
Valiev, Ruslan
Prokofyeva, Darya
Dzhaubermezov, Murat
Fedorova, Yuliya
Khusnutdinov, Shamil
Khusnutdinova, Elza
author_facet Nurgalieva, Alfiia
Galliamova, Lilia
Ekomasova, Natalia
Yankina, Maria
Sakaeva, Dina
Valiev, Ruslan
Prokofyeva, Darya
Dzhaubermezov, Murat
Fedorova, Yuliya
Khusnutdinov, Shamil
Khusnutdinova, Elza
author_sort Nurgalieva, Alfiia
collection PubMed
description 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.
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spelling pubmed-99563992023-02-25 Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development Nurgalieva, Alfiia Galliamova, Lilia Ekomasova, Natalia Yankina, Maria Sakaeva, Dina Valiev, Ruslan Prokofyeva, Darya Dzhaubermezov, Murat Fedorova, Yuliya Khusnutdinov, Shamil Khusnutdinova, Elza Genes (Basel) Article 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. MDPI 2023-01-21 /pmc/articles/PMC9956399/ /pubmed/36833207 http://dx.doi.org/10.3390/genes14020280 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Nurgalieva, Alfiia
Galliamova, Lilia
Ekomasova, Natalia
Yankina, Maria
Sakaeva, Dina
Valiev, Ruslan
Prokofyeva, Darya
Dzhaubermezov, Murat
Fedorova, Yuliya
Khusnutdinov, Shamil
Khusnutdinova, Elza
Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
title Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
title_full Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
title_fullStr Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
title_full_unstemmed Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
title_short Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
title_sort whole exome sequencing study suggests an impact of fanca, cdh1 and vegfa genes on diffuse gastric cancer development
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956399/
https://www.ncbi.nlm.nih.gov/pubmed/36833207
http://dx.doi.org/10.3390/genes14020280
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