rs1801166, APC

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenoma
CUI: C0001430
Disease: Adenoma
0.020 GeneticVariation BEFREE The risk of harboring adenoma(s) among subjects bearing the E1317Q variant was 1.29 (95% CI 0.09-18.0). 12537656 2002
Adenoma
CUI: C0001430
Disease: Adenoma
0.020 GeneticVariation BEFREE In the present study, 608 cases (377 patients with CRC, 145 patients with 4-100 lifetime adenomas, and 86 with < or =3 lifetime adenomas), and 679 controls (362 spouses and 317 patients with normal colonoscopy) were screened for the APC E1317Q variant. 14578138 2003
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE E1317Q is significantly associated with multiple colorectal adenomas (OR = 11. 11001924 2000
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE In conclusion, our results confirm that only a very small fraction of colorectal adenomas may be associated with the presence of E1317Q. 12537656 2002
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians. 15266213 2005
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE The APC E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, but further studies are still needed. 19474113 2009
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. 19701947 2009
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.040 GeneticVariation BEFREE The APC E1317Q variant was detected in 1.25% individuals undergoing testing. 17920230 2007
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.040 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
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.040 GeneticVariation BEFREE Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant. 19474113 2009
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.040 GeneticVariation BEFREE Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818). 26394139 2015
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
0.020 GeneticVariation BEFREE In all, E1317Q was identified in two of 182 patients with adenomatous polyps (1.1%) and in two of 235 controls (0.8%) (p = 0.59). 12537656 2002
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
0.020 GeneticVariation BEFREE The APC E1317Q variant in adenomatous polyps and colorectal cancers. 14578138 2003
Atrial Premature Complexes
CUI: C0033036
Disease: Atrial Premature Complexes
0.020 GeneticVariation BEFREE The APC E1317Q variant was detected in 1.25% individuals undergoing testing. 17920230 2007
Atrial Premature Complexes
CUI: C0033036
Disease: Atrial Premature Complexes
0.020 GeneticVariation BEFREE Real-time PCR assessed genetic variants of APC (I1307K and E1317Q), and four different single nucleotide polymorphisms (SNPs) in the CD24 gene: C170T (rs52812045), TG1527del (rs3838646), A1626G (rs1058881) and A1056G (rs1058818). 26394139 2015
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.020 GeneticVariation BEFREE However, when we used normal colonoscopy controls (E1317Q carrier frequency = 0.3%), the prevalence of E1317Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC patients with intact mismatch repair status, suggesting a possible role for E1317Q in colorectal tumorigenesis. 14578138 2003
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.020 GeneticVariation BEFREE These data support a novel mechanism in which p.Glu1317Gln in combination with other weak mutant APC alleles (generating polypepetides with zero, two, or three 20AARs) can provide the necessary growth advantage for colorectal tumorigenesis. 19701947 2009
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.010 GeneticVariation BEFREE The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians. 15266213 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE This finding suggests that E1317Q is unlikely to be associated with anything more than a moderate increase in risk of colorectal cancer. 10737725 2000
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Thus, our aim was to investigate the prevalence of I1307K and E1317Q in Swedish colorectal cancer patients in order to determine if these genetic variants are important predisposing factors to colorectal cancer in this population. 11267860 2001
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE None of the subjects with a family history of colorectal cancer carried the E1317Q variant. 12537656 2002
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE However, when we used normal colonoscopy controls (E1317Q carrier frequency = 0.3%), the prevalence of E1317Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC patients with intact mismatch repair status, suggesting a possible role for E1317Q in colorectal tumorigenesis. 14578138 2003
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
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 Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
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 Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE 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. 17119068 2006