rs1801166, APC

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
0.010 GeneticVariation BEFREE We compared the patterns of somatic APC mutations in tumors from patients with attenuated familial adenomatous polyposis (AFAP) who did, or did not, coinherit p.Glu1317Gln with their AFAP-causing APC mutations. 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
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
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
0.010 GeneticVariation BEFREE The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Pro1319Leu substitution. 11433413 2001
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E1317Q variants in 106 unselected cases and 88 hereditary/familial colorectal cancer cases including 22 cases of hereditary non-polyposis colorectal cancer (HNPCC) fulfilling the Amsterdam criteria. 11267860 2001
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.010 GeneticVariation BEFREE The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. 9724771 1998
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
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 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
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
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
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
0.020 GeneticVariation BEFREE The APC E1317Q variant in adenomatous polyps and colorectal cancers. 14578138 2003
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
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
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 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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The crude and adjusted risks of neoplasia associated with the E1317Q variant were calculated. 19474113 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE We compared the patterns of somatic APC mutations in tumors from patients with attenuated familial adenomatous polyposis (AFAP) who did, or did not, coinherit p.Glu1317Gln with their AFAP-causing APC mutations. 19701947 2009
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 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 The APC E1317Q variant was detected in 1.25% individuals undergoing testing. 17920230 2007
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE But APC E1317Q sporadic mutation was found in one tumor sample. 15507235 2004
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The APC variant E1317Q does not appear to be associated with increased risk for colorectal neoplasia in the general population. 14578138 2003
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