Cargando…

CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)

Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact...

Descripción completa

Detalles Bibliográficos
Autores principales: El-Husny, Antonette, Raiol-Moraes, Milene, Amador, Marcos, Ribeiro-dos-Santos, André M., Montagnini, André, Barbosa, Silvanira, Silva, Artur, Assumpção, Paulo, Ishak, Geraldo, Santos, Sidney, Pinto, Pablo, Cruz, Aline, Ribeiro-dos-Santos, Ândrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910547/
https://www.ncbi.nlm.nih.gov/pubmed/27192129
http://dx.doi.org/10.1590/1678-4685-GMB-2014-0342
_version_ 1782438025457827840
author El-Husny, Antonette
Raiol-Moraes, Milene
Amador, Marcos
Ribeiro-dos-Santos, André M.
Montagnini, André
Barbosa, Silvanira
Silva, Artur
Assumpção, Paulo
Ishak, Geraldo
Santos, Sidney
Pinto, Pablo
Cruz, Aline
Ribeiro-dos-Santos, Ândrea
author_facet El-Husny, Antonette
Raiol-Moraes, Milene
Amador, Marcos
Ribeiro-dos-Santos, André M.
Montagnini, André
Barbosa, Silvanira
Silva, Artur
Assumpção, Paulo
Ishak, Geraldo
Santos, Sidney
Pinto, Pablo
Cruz, Aline
Ribeiro-dos-Santos, Ândrea
author_sort El-Husny, Antonette
collection PubMed
description Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 germline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer. Among five probands we detected CDH1 germline mutations in two cases (40%). The mutation c.1023T > G was found in a HDGC family and the mutation c.1849G > A, which is nearly exclusive to African populations, was found in an early-onset case of gastric adenocarcinoma. The mutations described highlight the existence of gastric cancer cases caused by CDH1 germline mutations in northern Brazil, although such information is frequently ignored due to the existence of a large number of environmental factors locally. Our report represent the first CDH1 mutations in HDGC described from Brazil by an NGS platform.
format Online
Article
Text
id pubmed-4910547
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Sociedade Brasileira de Genética
record_format MEDLINE/PubMed
spelling pubmed-49105472016-07-01 CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS) El-Husny, Antonette Raiol-Moraes, Milene Amador, Marcos Ribeiro-dos-Santos, André M. Montagnini, André Barbosa, Silvanira Silva, Artur Assumpção, Paulo Ishak, Geraldo Santos, Sidney Pinto, Pablo Cruz, Aline Ribeiro-dos-Santos, Ândrea Genet Mol Biol Special Oncogenetics Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 germline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer. Among five probands we detected CDH1 germline mutations in two cases (40%). The mutation c.1023T > G was found in a HDGC family and the mutation c.1849G > A, which is nearly exclusive to African populations, was found in an early-onset case of gastric adenocarcinoma. The mutations described highlight the existence of gastric cancer cases caused by CDH1 germline mutations in northern Brazil, although such information is frequently ignored due to the existence of a large number of environmental factors locally. Our report represent the first CDH1 mutations in HDGC described from Brazil by an NGS platform. Sociedade Brasileira de Genética 2016-05-13 2016 /pmc/articles/PMC4910547/ /pubmed/27192129 http://dx.doi.org/10.1590/1678-4685-GMB-2014-0342 Text en Copyright © 2016, Sociedade Brasileira de Genética. http://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited.
spellingShingle Special Oncogenetics
El-Husny, Antonette
Raiol-Moraes, Milene
Amador, Marcos
Ribeiro-dos-Santos, André M.
Montagnini, André
Barbosa, Silvanira
Silva, Artur
Assumpção, Paulo
Ishak, Geraldo
Santos, Sidney
Pinto, Pablo
Cruz, Aline
Ribeiro-dos-Santos, Ândrea
CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
title CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
title_full CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
title_fullStr CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
title_full_unstemmed CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
title_short CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
title_sort cdh1 mutations in gastric cancer patients from northern brazil identified by next- generation sequencing (ngs)
topic Special Oncogenetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910547/
https://www.ncbi.nlm.nih.gov/pubmed/27192129
http://dx.doi.org/10.1590/1678-4685-GMB-2014-0342
work_keys_str_mv AT elhusnyantonette cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT raiolmoraesmilene cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT amadormarcos cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT ribeirodossantosandrem cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT montagniniandre cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT barbosasilvanira cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT silvaartur cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT assumpcaopaulo cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT ishakgeraldo cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT santossidney cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT pintopablo cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT cruzaline cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs
AT ribeirodossantosandrea cdh1mutationsingastriccancerpatientsfromnorthernbrazilidentifiedbynextgenerationsequencingngs