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


OBJECTIVE
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.


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.


CONCLUSIONS
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.
Department of Oncology, Clinical Sciences, Lund University, Lund, Sweden. mev.dominguez@med.lu.se
Mev Dominguez
MD
Valentin
Felipe Carneiro
FC
Da Silva
Erika Maria Monteiro
EM
Santos
Sabrina Daniela
SD
Da Silva
Fabio
F
De Oliveira Ferreira
Samuel
S
Aguiar Junior
Israel
I
Gomy
Carlos
C
Vaccaro
Maria Ana
MA
Redal
Adriana
A
Della Valle
Carlos
C
Sarroca
Lene Juel
LJ
Rasmussen
Dirce Maria
DM
Carraro
Benedito Mauro
BM
Rossi
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D000368:Aged; D001483:Base Sequence; D015179:Colorectal Neoplasms / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013020:South America
D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein