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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

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

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Autor(es):
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Valentin, Mev Dominguez [1] ; Da Silva, Felipe Carneiro [2, 3] ; Monteiro Santos, Erika Maria [2, 3] ; Da Silva, Sabrina Daniela [4] ; Ferreira, Fabio De Oliveira [2, 5] ; Aguiar Junior, Samuel [5, 2] ; Gomy, Israel [6, 2] ; Vaccaro, Carlos [7] ; Ana Redal, Maria [8] ; Della Valle, Adriana [9] ; Sarroca, Carlos [9] ; Rasmussen, Lene Juel [10] ; Carraro, Dirce Maria [2, 3] ; Rossi, Benedito Mauro [11]
Número total de Autores: 14
Afiliação do(s) autor(es):
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[1] Lund Univ, Dept Oncol, SE-22184 Lund - Sweden
[2] AC Camargo Hosp, Dept Pelv Surg, Sao Paulo - Brazil
[3] AC Camargo Hosp, Lab Genom & Mol Biol, Dept Mol Oncogenet, Sao Paulo - Brazil
[4] McGill Univ, Dept Med & Oncol, Sir Mortimer B Davis Jewish Gen Hosp, Montreal, PQ - Canada
[5] AC Camargo Hosp, Hereditary Colorectal Canc Registry, Sao Paulo - Brazil
[6] Univ Sao Paulo, Dept Genet, Med Sch Ribeirao Preto, BR-14049 Ribeirao Preto - Brazil
[7] Italian Hosp, Coloproctol Dept, Buenos Aires, DF - Argentina
[8] Italian Hosp, Hereditay Canc Program, Buenos Aires, DF - Argentina
[9] Fuerzas Armadas Hosp, Montevideo - Uruguay
[10] Univ Copenhagen, Dept Cellular & Mol Med, Ctr Healthy Aging, Copenhagen - Denmark
[11] Barretos Canc Hosp, Pio Fdn 12, Barretos, SP - Brazil
Número total de Afiliações: 11
Tipo de documento: Artigo Científico
Fonte: ANTICANCER RESEARCH; v. 32, n. 10, p. 4347-4351, OCT 2012.
Citações Web of Science: 7
Resumo

Background: 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. Materials and Methods: DNA was obtained from peripheral blood and polymerase chain reaction (PCR) was performed, followed by direct sequencing. Results: The Val allelic of the I219V polymorphism was found in 51.61% (64/124) of the individuals, with an allelic frequency of 0.3. MLH1 or MHS2 pathogenic mutations were found in 32.81% (21/64) and in 23.33% (14/60) of Val-carriers and non-carriers, respectively. Conclusion: The Val-carrying genotype was frequent in the studied population; however, it does not appear to exert any modifier effect on MLH1 or MSH2 pathogenic mutations and the development of colorectal cancer. (AU)

Processo FAPESP: 08/57887-9 - Instituto Nacional de Oncogenômica
Beneficiário:Luiz Paulo Kowalski
Linha de fomento: Auxílio à Pesquisa - Temático