rs1801166, APC

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE But APC E1317Q sporadic mutation was found in one tumor sample. 15507235 2004
Hyperplastic Polyp
CUI: C0333983
Disease: Hyperplastic Polyp
0.010 GeneticVariation BEFREE Four patients had a germ-line E1317Q missense variant of APC that was not present in controls; one of these individuals had an unusually large number of metaplastic polyps of the colorectum. 9724771 1998
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
Malignant neoplasm of colon and/or rectum
0.080 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
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
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
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
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
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
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
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
Malignant neoplasm of colon and/or rectum
0.080 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
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
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
Malignant neoplasm of colon and/or rectum
0.080 GeneticVariation BEFREE None of the subjects with a family history of colorectal cancer carried the E1317Q variant. 12537656 2002
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
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
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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 GeneticVariation BEFREE SSCP followed by direct DNA sequencing revealed APC mutations in 2/44 (5%) squamous cell carcinomas, a 2-bp deletion in codon 1465 (AGT-->A), and a GAA-->CAA (Glu-->Gln) mutation at codon 1317. 15072829 2004
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
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
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
0.020 GeneticVariation BEFREE The APC E1317Q variant in adenomatous polyps and colorectal cancers. 14578138 2003
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE The APC E1317Q and I1307K polymorphisms in non-colorectal cancers. 17920230 2007