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Title: Evaluation of MLH1 I219V Polymorphism in Unrelated South American Individuals Suspected of Having Lynch Syndrome
Authors: VALENTIN, Mev DominguezSILVA, Felipe Carneiro DaSANTOS, Erika Maria MonteiroSILVA, Sabrina Daniela DaFERREIRA, Fabio De OliveiraAGUIAR JUNIOR, SamuelGOMY, IsraelVACCARO, CarlosREDAL, Maria AnaVALLE, Adriana DellaSARROCA, CarlosRASMUSSEN, Lene JuelCARRARO, Dirce MariaROSSI, Benedito Mauro
Citation: ANTICANCER RESEARCH, v.32, n.10, p.4347-4351, 2012
Abstract: 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.
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Artigos e Materiais de Revistas Científicas - HC/ICESP
Instituto do Câncer do Estado de São Paulo - HC/ICESP

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