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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shaheed Beheshti University of Medical Sciences
2021
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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. |
format | Online Article Text |
id | pubmed-8035541 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Shaheed Beheshti University of Medical Sciences |
record_format | MEDLINE/PubMed |
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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