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dc.creatorEL HUSNY, Antonette Souto-
dc.creatorMORAES, Milene Raiol de-
dc.creatorAMADOR, Marcos Antônio Trindade-
dc.creatorSANTOS, André Maurício Ribeiro dos-
dc.creatorMONTAGNINI, Andre Luis-
dc.creatorBARBOSA, Maria Silvanira Ribeiro-
dc.creatorSILVA, Artur Luiz da Costa da-
dc.creatorASSUMPÇÃO, Paulo Pimentel de-
dc.creatorISHAK, Geraldo-
dc.creatorSANTOS, Sidney Emanuel Batista dos-
dc.creatorPINTO, Pablo Diego do Carmo-
dc.creatorCRUZ, Aline Maria Pereira-
dc.creatorSANTOS, Ândrea Kely Campos Ribeiro dos-
dc.identifier.citationEL 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. <>.pt_BR
dc.description.abstractGastric 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.pt_BR
dc.publisherUniversidade Federal do Parápt_BR
dc.relation.ispartofGenetics and Molecular Biologypt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectCâncer gástricopt_BR
dc.subjectAnálise de genotipagempt_BR
dc.titleCDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS)pt_BR
dc.typeArtigo de Periódicopt_BR
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