The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle.
Biallelic germline mutations in the MYH gene cause MYH-Associated Polyposis but patients with a single mutation possibly have an increased colorectal cancer (CRC) risk. Using DNA from consecutive CRC patients we carried out a case-control study, with the aim to contribute data on the Italian population. Genotyping of four MYH mutations found two biallelic and two monoallelic carriers among 439 cases, and only one heterozygous individual among 247 age-matched controls. The frequencies of the mutant alleles were 0.68% (6/878) and 0.20% (1/494), respectively. These differences were not statistically significant. Results on the monoallelic carriers were combined with those from 11 studies on other populations, and the risk of developing a CRC was estimated with an OR=1.11 (95% CI=0.90; 1.36), yet not reaching a significant evidence of increased CRC risk.
Avezzù
Alessandra
A
Oncologia Sperimentale 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy.
Agostini
Marco
M
Pucciarelli
Salvatore
S
Lise
Mauro
M
Urso
Emanuele Damiano
ED
Mammi
Isabella
I
Maretto
Isacco
I
Enzo
Maria Vittoria
MV
Pastrello
Chiara
C
Lise
Mario
M
Nitti
Donato
D
Viel
Alessandra
A
D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase