title: CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).
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.
authors.affiliation: Laboratório de Genética Humana e Médica (LGHM), Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Antonette
authors.initials: A
authors.lastname: El-Husny
authors.affiliation: Laboratório de Genética Humana e Médica (LGHM), Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Milene
authors.initials: M
authors.lastname: Raiol-Moraes
authors.affiliation: Laboratório de Genética Humana e Médica (LGHM), Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Marcos
authors.initials: M
authors.lastname: Amador
authors.affiliation: Laboratório de Genética Humana e Médica (LGHM), Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: André M
authors.initials: AM
authors.lastname: Ribeiro-Dos-Santos
authors.affiliation: Instituto Sírio-Libanês de Ensino e Pesquisa, Hospital Sírio-Libanês, São Paulo, SP, Brazil.
authors.forename: André
authors.initials: A
authors.lastname: Montagnini
authors.affiliation: Laboratório de Polimorfismo de DNA - Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Silvanira
authors.initials: S
authors.lastname: Barbosa
authors.affiliation: Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Laboratório de Polimorfismo de DNA - Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Artur
authors.initials: A
authors.lastname: Silva
authors.affiliation: Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Paulo
authors.initials: P
authors.lastname: Assumpção
authors.affiliation: Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Hospital Universitário João de Barros Barreto, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Geraldo
authors.initials: G
authors.lastname: Ishak
authors.affiliation: Laboratório de Genética Humana e Médica (LGHM), Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Sidney
authors.initials: S
authors.lastname: Santos
authors.affiliation: Laboratório de Genética Humana e Médica (LGHM), Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Pablo
authors.initials: P
authors.lastname: Pinto
authors.affiliation: Laboratório de Genética Humana e Médica (LGHM), Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Aline
authors.initials: A
authors.lastname: Cruz
authors.affiliation: Laboratório de Genética Humana e Médica (LGHM), Instituto de Ciências Biológicas, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Rede de Pesquisa em Genômica Populacional Humana, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.|Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará (UFPA), Belém, PA, Brazil.
authors.forename: Ândrea
authors.initials: Â
authors.lastname: Ribeiro-Dos-Santos