APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. 15507235 2004
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. 15507235 2004
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. 12822869 2003
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. 12822869 2003
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Studies such as those on APC I1307K and CHEK2 1100delC may suggest the way forward for the identification of 'breast-colon cancer' genes. 14574178 2001
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K variant was analyzed in 242 eligible respondents who were selected because they had a personal or family history of colon cancer. 11159880 2001
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K polymorphism, therefore, exists in all ethnic Jewish populations: Ashkenazi and non-Ashkenazi, with or without colon cancer. 11551102 2001
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K polymorphism, therefore, exists in all ethnic Jewish populations: Ashkenazi and non-Ashkenazi, with or without colon cancer. 11551102 2001
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Studies such as those on APC I1307K and CHEK2 1100delC may suggest the way forward for the identification of 'breast-colon cancer' genes. 14574178 2001
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K variant was analyzed in 242 eligible respondents who were selected because they had a personal or family history of colon cancer. 11159880 2001
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. 10756345 2000
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. 10756345 2000
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with gastric carcinoma (13 MSI-H and 44 MSI-negative), or ten patients with sporadic MSI-H colon cancer. 10445854 1999
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE We have shown that the family's phenotype does not result from APC mutations (including the I1307K variant) or from genetic changes in the other known genes that predispose to colon cancer. 10092300 1999
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE However, a second study indicated that the I1307K mutation did not contribute greatly to the risk of colon cancer in Ashkenazi breast-ovarian cancer families, and a role of mismatch repair deficiency was suggested. 9869603 1999
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE However, a second study indicated that the I1307K mutation did not contribute greatly to the risk of colon cancer in Ashkenazi breast-ovarian cancer families, and a role of mismatch repair deficiency was suggested. 9869603 1999
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with gastric carcinoma (13 MSI-H and 44 MSI-negative), or ten patients with sporadic MSI-H colon cancer. 10445854 1999
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE We have shown that the family's phenotype does not result from APC mutations (including the I1307K variant) or from genetic changes in the other known genes that predispose to colon cancer. 10092300 1999
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Significantly, of the 12 individuals who possessed the I1307K mutation, none was diagnosed with colorectal cancer and none had a known first-, second-, or third-degree relative diagnosed with colon cancer. 9407954 1997
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.100 GeneticVariation BEFREE Significantly, of the 12 individuals who possessed the I1307K mutation, none was diagnosed with colorectal cancer and none had a known first-, second-, or third-degree relative diagnosed with colon cancer. 9407954 1997
dbSNP: rs777980327
rs777980327
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE Relationships between adenomatous polyposis coli (APC) mutations, BRAF V600E mutations, and the CpG island methylator phenotype (CIMP) in colon cancer have not been explored. 17293392 2007
dbSNP: rs1380087059
rs1380087059
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE A636P is associated with early-onset colon cancer in Ashkenazi Jews. 12595050 2003
dbSNP: rs587781394
rs587781394
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE A636P is associated with early-onset colon cancer in Ashkenazi Jews. 12595050 2003
dbSNP: rs459552
rs459552
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE We used data collected as part of a multicenter study of 1,585 incident cases of colon cancer and 1,945 age- and sex-matched population-based controls to evaluate genetic, dietary, and environmental associations with the D1822V [corrected] variant of the APC gene. 11221825 2001