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

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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 ^{[5, 2]} ; 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]

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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

• 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
• Modalidade de apoio: Auxílio à Pesquisa - Temático