APC E1317Q Is Not Associated with Colorectal Cancer in a Population-Based Case-Control Study in Northern Israel

Abstract

A variant in the adenomatous polyposis coli gene, APC E1317Q, has been inconsistently associated with risk of colorectal cancer. We used data collected as a part of the Molecular Epidemiology of Colorectal Cancer study, a population-based study of colorectal cancer in northern Israel (1,834 matched cases and controls), to evaluate the relationship between this variant and risk of sporadic colorectal cancer. There was no association between E1317Q and colorectal cancer [odds ratio (OR), 1.15; 95% CI, 0.65-2.02]. When the control sample was restricted to polyp-free controls, the OR was 0.87 (95% CI, 0.36-2.14), indicating that this result is unlikely to be due to nondifferential misclassification due to undiagnosed polyps. A meta-analysis including these data and prior published reports found a nonsignificant summary OR nearly identical to the association reported here in the Molecular Epidemiology of Colorectal Cancer case-control study. Although there are previously published reports addressing this question, due to the low frequency of the variant, many of these studies lack the power to estimate the risk in a meaningful way. Given the substantial size of our study and the consistency of our findings with the results of our meta-analyses, we conclude that it is unlikely that APC E1317Q is associated with a clinically meaningful risk of colorectal cancer.(Cancer Epidemiol Biomarkers Prev 2006;15(11):2325 -7)

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

“…We also found a single TINF2 S245Y variant that is associated with dyskeratosis congenita. The likely benign variant APC E1317Q was observed in two cases (Rozek et al, 2006). …”

Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk

“…Previous studies(31–43) have focused on four germline missense variants, i.e., APC I1307K, E1317Q, D1822V and G2502S, of which, APC I1307K(32, 44) and APC E1317Q(31) are founder mutations in Ashkenazi Jews and have a rare prevalence (minor allele frequency (MAF) of < 1 percent) in non-Hispanic Whites (33–36). In Askenazim, APC I1307K (MAF=6%) is associated with risk of colon cancer without the corresponding polyposis seen in FAP patients(32, 44) and APC E1317Q(31) is associated with colorectal tumors in some but not all studies (38, 39). In non-Hispanic white populations, the remaining two reported APC SNPs, D1822V and G2502S, have a MAF of 22.5% and 2.5%, respectively (120 HapMap representative European ancestry panel).…”

Screening the APC, MLH1, MSH2 and TP53 Mutations in Patients with Early Onset of Colorectal Cancer

“…The c.3949G>C mutation is significantly associated with colorectal adenomas and carcinomas [42,52]. Some study showed that there was no association between Glu1317Gln and colorectal cancer [53][54][55].…”