Evaluation of MLH1 I219V Polymorphism in Unrelated South American Individuals Suspected of Having Lynch Syndrome.

Research output: Contribution to journalArticle

Abstract

Some single-nucleotide polymorphisms are associated with higher risk of colorectal cancer development and are suggested to explain part of the genetic contribution to Lynch syndrome. Aim: To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features.

Details

Authors
  • Mev Dominguez
  • Felipe Carneiro DA Silva
  • Erika Maria Monteiro Santos
  • Sabrina Daniela DA Silva
  • Fabio DE Oliveira Ferreira
  • Samuel Aguiar Junior
  • Israel Gomy
  • Carlos Vaccaro
  • Maria Ana Redal
  • Adriana Della Valle
  • Carlos Sarroca
  • Lene Rasmussen
  • Dirce Maria Carraro
  • Benedito Mauro Rossi
Organisations
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology

Keywords

  • MLH1, I219V, MSH2, Lynch syndrome, single-nucleotide polymorphism
Original languageEnglish
Pages (from-to)4347-4351
JournalAnticancer research
Volume32
Issue number10
Publication statusPublished - 2012
Publication categoryResearch
Peer-reviewedYes