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
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
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
Malignant neoplasm of colon and/or rectum
0.080 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
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
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
Malignant neoplasm of colon and/or rectum
0.080 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
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
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
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
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
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
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
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
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
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
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
Malignant neoplasm of colon and/or rectum
0.080 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
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
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