Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.

MEV DOMINGUEZ VALENTIN; FELIPE CARNEIRO DA SILVA; ERIKA MARIA MONTEIRO DOS 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 JUEL RASMUSSEN; DIRCE MARIA CARRARO; BENEDITO MAURO ROSSI

ANTICANCER RESEARCH

INT INST ANTICANCER RESEARCH

Año: 2012

0250-7005

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.