rs1801166, APC

N. diseases: 12
Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE While wild type APC sequences were found in two mummies, we discovered the E1317Q missense mutation, known to be a colorectal cancer predisposing mutation, in a large intestine tissue of an 18th century mummy. 26863316 2016
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE In a large Scottish case-control study, we investigated the effects of adenomatous polyposis coli (APC) Asp1822Val (rs459552) and APC Glu1317Gln substitutions on colorectal cancer (CRC) risk and whether these associations were influenced by lifestyle and dietary factors. 18375958 2008
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29-32.25), E1317Q = 1.08 (0.59-2.74), G2502S = 1 (0.65-1.63), D1822V (heterozygous) = 0.79 (0.64-0.98), D1822V (homozygous) = 0.82 (0.63-1.27). 18612690 2008
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE APC E1317Q is not associated with Colorectal Cancer in a population-based case-control study in Northern Israel. 17119068 2007
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients. 15266213 2005
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE In Jewish CRC patients the E1317Q variant plays little if any role in colorectal cancer susceptibility and genetic testing for this variant is not warranted. 15929773 2005
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE Two of the missense variants found here, E1317Q and D1822V, have previously been related to a difference in risk of colorectal cancer. 15122587 2004
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE The APC E1317Q variant in adenomatous polyps and colorectal cancers. 14578138 2004
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE APC I1307K and E1317Q variants are rare or do not occur in Swedish colorectal cancer patients. 11267860 2001
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
0.100 GeneticVariation BEFREE Prevalence of the APC E1317Q variant in colorectal cancer patients. 10737725 2000