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First report of a Mexican family with mutation in the CDH1 gene
BACKGROUND: Germline mutations in E‐cadherin (CDH1) gene are associated with autosomal‐dominantly inherited cancer syndrome characterized by diffuse gastric cancer, lobular breast cancer, and in some families, cleft lip/palate. However, there may be generations in which these neoplasms do not occur...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667379/ https://www.ncbi.nlm.nih.gov/pubmed/32886433 http://dx.doi.org/10.1002/mgg3.1208 |
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author | Martínez Valenzuela, Carmen Castelán‐Maldonado, Edmundo Erbey Carvajal‐Zarrabal, Octavio Calderón‐Garcidueñas, Ana Laura |
author_facet | Martínez Valenzuela, Carmen Castelán‐Maldonado, Edmundo Erbey Carvajal‐Zarrabal, Octavio Calderón‐Garcidueñas, Ana Laura |
author_sort | Martínez Valenzuela, Carmen |
collection | PubMed |
description | BACKGROUND: Germline mutations in E‐cadherin (CDH1) gene are associated with autosomal‐dominantly inherited cancer syndrome characterized by diffuse gastric cancer, lobular breast cancer, and in some families, cleft lip/palate. However, there may be generations in which these neoplasms do not occur at all in a family and later on, one or another carcinoma arises, which makes it difficult for physicians to think about hereditary origin. METHODS: We report the first Mexican family with CDH1 mutation (variant c.377del). RESULTS: An asymptomatic young woman underwent a search for mutations in susceptibility genes for breast cancer due to the history of this neoplasm in her mother and maternal aunt. A CDH1 mutation was detected. After an endoscopy, a diffuse gastric carcinoma was found. Later on, three generations of this family were studied. The findings are presented. CONCLUSION: Medical communities should be aware of the contribution of this gene in the development of hereditary diffuse gastric carcinoma (HDGC) and breast cancer. |
format | Online Article Text |
id | pubmed-7667379 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-76673792020-11-20 First report of a Mexican family with mutation in the CDH1 gene Martínez Valenzuela, Carmen Castelán‐Maldonado, Edmundo Erbey Carvajal‐Zarrabal, Octavio Calderón‐Garcidueñas, Ana Laura Mol Genet Genomic Med Clinical Reports BACKGROUND: Germline mutations in E‐cadherin (CDH1) gene are associated with autosomal‐dominantly inherited cancer syndrome characterized by diffuse gastric cancer, lobular breast cancer, and in some families, cleft lip/palate. However, there may be generations in which these neoplasms do not occur at all in a family and later on, one or another carcinoma arises, which makes it difficult for physicians to think about hereditary origin. METHODS: We report the first Mexican family with CDH1 mutation (variant c.377del). RESULTS: An asymptomatic young woman underwent a search for mutations in susceptibility genes for breast cancer due to the history of this neoplasm in her mother and maternal aunt. A CDH1 mutation was detected. After an endoscopy, a diffuse gastric carcinoma was found. Later on, three generations of this family were studied. The findings are presented. CONCLUSION: Medical communities should be aware of the contribution of this gene in the development of hereditary diffuse gastric carcinoma (HDGC) and breast cancer. John Wiley and Sons Inc. 2020-09-04 /pmc/articles/PMC7667379/ /pubmed/32886433 http://dx.doi.org/10.1002/mgg3.1208 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Clinical Reports Martínez Valenzuela, Carmen Castelán‐Maldonado, Edmundo Erbey Carvajal‐Zarrabal, Octavio Calderón‐Garcidueñas, Ana Laura First report of a Mexican family with mutation in the CDH1 gene |
title | First report of a Mexican family with mutation in the CDH1 gene |
title_full | First report of a Mexican family with mutation in the CDH1 gene |
title_fullStr | First report of a Mexican family with mutation in the CDH1 gene |
title_full_unstemmed | First report of a Mexican family with mutation in the CDH1 gene |
title_short | First report of a Mexican family with mutation in the CDH1 gene |
title_sort | first report of a mexican family with mutation in the cdh1 gene |
topic | Clinical Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667379/ https://www.ncbi.nlm.nih.gov/pubmed/32886433 http://dx.doi.org/10.1002/mgg3.1208 |
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