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Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer

AIM: we aimed to evaluate somatic mutations of CTNNA1 in DGC patients. BACKGROUND: Diffuse gastric cancer (DGC) is a major type of gastric cancer where most cases are sporadic diffuse gastric cancer (SDGC). It has been shown that mutations in CTNNA1 are responsible for some cases of hereditary diffu...

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Autores principales: Naghi Vishteh, Mohadeseh, Salmani, Tayyeb Ali, Javadi Mamaghani, Amirreza, seyyed tabaei, seyyed javad, Kheirollahi, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shaheed Beheshti University of Medical Sciences 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8035541/
https://www.ncbi.nlm.nih.gov/pubmed/33868605
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author Naghi Vishteh, Mohadeseh
Salmani, Tayyeb Ali
Javadi Mamaghani, Amirreza
seyyed tabaei, seyyed javad
Kheirollahi, Majid
author_facet Naghi Vishteh, Mohadeseh
Salmani, Tayyeb Ali
Javadi Mamaghani, Amirreza
seyyed tabaei, seyyed javad
Kheirollahi, Majid
author_sort Naghi Vishteh, Mohadeseh
collection PubMed
description AIM: we aimed to evaluate somatic mutations of CTNNA1 in DGC patients. BACKGROUND: Diffuse gastric cancer (DGC) is a major type of gastric cancer where most cases are sporadic diffuse gastric cancer (SDGC). It has been shown that mutations in CTNNA1 are responsible for some cases of hereditary diffuse gastric cancer (HDGC). METHODS: In the present work, 48 formalin-fixed paraffin-embedded tissues, including samples of 38 SDGC and 10 HDGC patients were examined through Sanger sequencing approach on PCR products amplified from 18 exons and boundaries of intron/exon of CTNNA1 gene. RESULTS: We revealed 9 novel somatic mutations in CTNNA1 gene in patients with HDGC and SDGC, from which one variant was intronic. Eight patients had at least one disease-causing mutation (16.6%). Most of the patients were in the III stage of cancer (50%). Except for one patient, histological type of the rest of mutation-harboring patients was signet ring cell carcinoma, and only one HDGC patient had CTNNA1 mutation. CONCLUSION: Our study showed several novel variants in the CTNNA1 gene in Iranian sporadic and hereditary DGC patients, and implies that the CTNNA1 gene mutations could be involved in the pathogenesis of DGC, either hereditary or in sporadic cases.
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spelling pubmed-80355412021-04-16 Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer Naghi Vishteh, Mohadeseh Salmani, Tayyeb Ali Javadi Mamaghani, Amirreza seyyed tabaei, seyyed javad Kheirollahi, Majid Gastroenterol Hepatol Bed Bench Original Article AIM: we aimed to evaluate somatic mutations of CTNNA1 in DGC patients. BACKGROUND: Diffuse gastric cancer (DGC) is a major type of gastric cancer where most cases are sporadic diffuse gastric cancer (SDGC). It has been shown that mutations in CTNNA1 are responsible for some cases of hereditary diffuse gastric cancer (HDGC). METHODS: In the present work, 48 formalin-fixed paraffin-embedded tissues, including samples of 38 SDGC and 10 HDGC patients were examined through Sanger sequencing approach on PCR products amplified from 18 exons and boundaries of intron/exon of CTNNA1 gene. RESULTS: We revealed 9 novel somatic mutations in CTNNA1 gene in patients with HDGC and SDGC, from which one variant was intronic. Eight patients had at least one disease-causing mutation (16.6%). Most of the patients were in the III stage of cancer (50%). Except for one patient, histological type of the rest of mutation-harboring patients was signet ring cell carcinoma, and only one HDGC patient had CTNNA1 mutation. CONCLUSION: Our study showed several novel variants in the CTNNA1 gene in Iranian sporadic and hereditary DGC patients, and implies that the CTNNA1 gene mutations could be involved in the pathogenesis of DGC, either hereditary or in sporadic cases. Shaheed Beheshti University of Medical Sciences 2021 /pmc/articles/PMC8035541/ /pubmed/33868605 Text en ©2021 RIGLD, Research Institute for Gastroenterology and Liver Diseases https://creativecommons.org/licenses/by/3.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/ (https://creativecommons.org/licenses/by/3.0/) ) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Naghi Vishteh, Mohadeseh
Salmani, Tayyeb Ali
Javadi Mamaghani, Amirreza
seyyed tabaei, seyyed javad
Kheirollahi, Majid
Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer
title Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer
title_full Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer
title_fullStr Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer
title_full_unstemmed Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer
title_short Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer
title_sort novel somatic variants in ctnna1 gene in iranian patients with diffuse gastric cancer
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8035541/
https://www.ncbi.nlm.nih.gov/pubmed/33868605
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