TY - JOUR
T1 - The role of MYH gene in genetic predisposition to colorectal cancer
T2 - Another piece of the puzzle
AU - Avezzù, Alessandra
AU - Agostini, Marco
AU - Pucciarelli, Salvatore
AU - Lise, Mauro
AU - Urso, Emanuele Damiano
AU - Mammi, Isabella
AU - Maretto, Isacco
AU - Enzo, Maria Vittoria
AU - Pastrello, Chiara
AU - Lise, Mario
AU - Nitti, Donato
AU - Viel, Alessandra
PY - 2008/9/18
Y1 - 2008/9/18
N2 - 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.
AB - 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.
KW - Colorectal cancer
KW - MYH
KW - Polyposis
UR - http://www.scopus.com/inward/record.url?scp=48749090886&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=48749090886&partnerID=8YFLogxK
U2 - 10.1016/j.canlet.2008.04.004
DO - 10.1016/j.canlet.2008.04.004
M3 - Article
C2 - 18495334
AN - SCOPUS:48749090886
VL - 268
SP - 308
EP - 313
JO - Cancer Letters
JF - Cancer Letters
SN - 0304-3835
IS - 2
ER -