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metadata.dc.type: Artigo de Periódico
Issue Date: Jun-2016
metadata.dc.creator: EL HUSNY, Antonette Souto
MORAES, Milene Raiol de
AMADOR, Marcos Antônio Trindade
SANTOS, André Maurício Ribeiro dos
BARBOSA, Maria Silvanira Ribeiro
SILVA, Artur Luiz da Costa da
ASSUMPÇÃO, Paulo Pimentel de
ISHAK, Geraldo
SANTOS, Sidney Emanuel Batista dos
PINTO, Pablo Diego do Carmo
CRUZ, Aline Maria Pereira
SANTOS, Ândrea Kely Campos Ribeiro dos
Title: CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)
Citation: EL HUSNY, Antonette Souto et al. CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS). Genetics and Molecular Biology, Ribeirão Preto, v. 39, n. 2, p. 189-198, abr./jun. 2016. Disponível em: <>. Acesso em: 07 jul. 2017. Epub 13-Maio-2016. <>.
Abstract: 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.
Keywords: Mutação
Câncer gástrico
Análise de genotipagem
Series/Report no.: Genetics and Molecular Biology
ISSN: 1678-4685 Brasil
Publisher: Universidade Federal do Pará
metadata.dc.publisher.initials: UFPA
metadata.dc.rights: Acesso Aberto
Appears in Collections:Artigos Científicos - ICB

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