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

Dominguez, Mev LU ; DA Silva, Felipe Carneiro; Santos, Erika Maria Monteiro; DA Silva, Sabrina Daniela; DE Oliveira Ferreira, Fabio; Junior, Samuel Aguiar; Gomy, Israel; Vaccaro, Carlos; Redal, Maria Ana and Della Valle, Adriana, et al. (2012) In Anticancer Research 32(10). p.4347-4351
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.
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organization
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type
Contribution to journal
publication status
published
subject
keywords
MLH1, I219V, MSH2, Lynch syndrome, single-nucleotide polymorphism
in
Anticancer Research
volume
32
issue
10
pages
4347 - 4351
publisher
International Institute of Cancer Research
external identifiers
  • wos:000310111800020
  • pmid:23060557
  • scopus:84867761432
ISSN
1791-7530
language
English
LU publication?
yes
id
f862dbe9-2e3b-4efe-a5b6-250dfc90f21b (old id 3160802)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/23060557?dopt=Abstract
date added to LUP
2012-11-01 16:37:41
date last changed
2017-09-24 03:12:15
@article{f862dbe9-2e3b-4efe-a5b6-250dfc90f21b,
  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.},
  author       = {Dominguez, Mev and DA Silva, Felipe Carneiro and Santos, Erika Maria Monteiro and DA Silva, Sabrina Daniela and DE Oliveira Ferreira, Fabio and Junior, Samuel Aguiar and Gomy, Israel and Vaccaro, Carlos and Redal, Maria Ana and Della Valle, Adriana and Sarroca, Carlos and Rasmussen, Lene and Carraro, Dirce Maria and Rossi, Benedito Mauro},
  issn         = {1791-7530},
  keyword      = {MLH1,I219V,MSH2,Lynch syndrome,single-nucleotide polymorphism},
  language     = {eng},
  number       = {10},
  pages        = {4347--4351},
  publisher    = {International Institute of Cancer Research},
  series       = {Anticancer Research},
  title        = {Evaluation of MLH1 I219V Polymorphism in Unrelated South American Individuals Suspected of Having Lynch Syndrome.},
  volume       = {32},
  year         = {2012},
}