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The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.
Pinheiro, Manuela; Francisco, Inês; Pinto, Carla; Peixoto, Ana; Veiga, Isabel; Filipe, Bruno; Santos, Catarina; Maia, Sofia; Silva, João; Pinto, Pedro; Santos, Rui; Claro, Isabel; Lage, Pedro; Lopes, Paula; Ferreira, Sara; Rosa, Isadora; Fonseca, Ricardo; Rodrigues, Paula; Henrique, Rui; Chaves, Paula; Pereira, António Dias; Brandão, Catarina; Albuquerque, Cristina; Teixeira, Manuel R.
Afiliação
  • Pinheiro M; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Francisco I; Molecular Pathobiology Research Unit, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Pinto C; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Peixoto A; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Veiga I; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Filipe B; Molecular Pathobiology Research Unit, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Santos C; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Maia S; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Silva J; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Pinto P; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Santos R; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Claro I; Department of Gastroenterology, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Lage P; Familial Risk Clinic, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Lopes P; Department of Gastroenterology, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Ferreira S; Familial Risk Clinic, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Rosa I; Department of Pathology, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Fonseca R; Department of Gastroenterology, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Rodrigues P; Familial Risk Clinic, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Henrique R; Department of Gastroenterology, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Chaves P; Familial Risk Clinic, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Pereira AD; Department of Pathology, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Brandão C; Familial Risk Clinic, Portuguese Oncology Institute of Lisbon, Lisbon, Portugal.
  • Albuquerque C; Department of Pathology, Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Teixeira MR; Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.
Genes Chromosomes Cancer ; 58(9): 657-664, 2019 09.
Article em En | MEDLINE | ID: mdl-30968502
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais Hereditárias sem Polipose / Efeito Fundador / Códon sem Sentido / Proteína 2 Homóloga a MutS Limite: Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais Hereditárias sem Polipose / Efeito Fundador / Códon sem Sentido / Proteína 2 Homóloga a MutS Limite: Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2019 Tipo de documento: Article