Literature DB >> 10612836

Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.

G Isidro1, I Veiga, P Matos, S Almeida, S Bizarro, B Marshall, M Baptista, J Leite, F Regateiro, J Soares, S Castedo, M G Boavida.   

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is considered to be determined by germline mutations in the mismatch repair (MMR) genes, especially MSH2 and MLH1. While screening for mutations in these two genes in HNPCC portuguese families, 3 previously unreported MSH2 and 1 MLH1 mutations have been identified in families meeting strict Amsterdam criteria. Hum Mutat 15:116, 2000. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID: 10612836     DOI: 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  4 in total

1.  Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Authors:  Mev Dominguez Valentin; Felipe Carneiro da Silva; Erika Maria Monteiro dos Santos; Bianca Garcia Lisboa; Ligia Petrolini de Oliveira; Fabio de Oliveira Ferreira; Israel Gomy; Wilson Toshihiko Nakagawa; Samuel Aguiar Junior; Mariana Redal; Carlos Vaccaro; Adriana Della Valle; Carlos Sarroca; Dirce Maria Carraro; Benedito Mauro Rossi
Journal:  Fam Cancer       Date:  2011-12       Impact factor: 2.375

2.  Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

Authors:  Alison E Gammie; Naz Erdeniz; Julia Beaver; Barbara Devlin; Afshan Nanji; Mark D Rose
Journal:  Genetics       Date:  2007-08-24       Impact factor: 4.562

3.  Lynch syndrome in South America: past, present and future.

Authors:  Carlos A Vaccaro; Carlos Sarroca; Benedito Rossi; Francisco Lopez-Kostner; Mev Dominguez; Natalia Causada Calo; Raul Cutait; Adriana Della Valle; Lina Nuñez; Florencia Neffa; Karin Alvarez; Maria Laura Gonzalez; Pablo Kalfayan; Henry T Lynch; James Church
Journal:  Fam Cancer       Date:  2016-07       Impact factor: 2.375

4.  Mutation spectrum in South American Lynch syndrome families.

Authors:  Mev Dominguez-Valentin; Mef Nilbert; Patrik Wernhoff; Francisco López-Köstner; Carlos Vaccaro; Carlos Sarroca; Edenir Ines Palmero; Alejandro Giraldo; Patricia Ashton-Prolla; Karin Alvarez; Alejandra Ferro; Florencia Neffa; Junea Caris; Dirce M Carraro; Benedito M Rossi
Journal:  Hered Cancer Clin Pract       Date:  2013-12-18       Impact factor: 2.857

  4 in total

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