Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11954856
rs11954856
APC
0.020 GeneticVariation BEFREE The haplotypes G-T in APC (rs11954856-rs459552) and A-C in DVL2 (rs2074222-rs222836) were associated with decreased risk of CRC, while the G-T haplotype in the DVL2 gene was associated with increased CRC risk. 31723073

2019
dbSNP: rs11954856
rs11954856
APC
0.020 GeneticVariation BEFREE We found that rs11954856 in the <i>APC</i> gene was associated with colorectal cancer and could increase the expression levels of <i>APC</i>, <i>β-catenin</i>, <i>TCF7L1</i>, <i>TCF7L2</i> and <i>LEF1</i> genes in the pathway in the CRC patients, demonstrating the involvement of APC in the pathological processes leading to CRC. 29050326

2017
dbSNP: rs121913224
rs121913224
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913327
rs121913327
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913331
rs121913331
APC
0.010 GeneticVariation BEFREE The nonsense mutation Arg1114X in APC gene was found in five of 43 CRC tumor tissues. 17653897

2007
dbSNP: rs1268298845
rs1268298845
APC
0.010 GeneticVariation BEFREE Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma. 24518836

2014
dbSNP: rs137854573
rs137854573
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854575
rs137854575
APC
A 0.700 CausalMutation CLINVAR

dbSNP: rs137854580
rs137854580
APC
0.010 GeneticVariation BEFREE Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X). 21995949

2012
dbSNP: rs1400295986
rs1400295986
APC
0.700 GeneticVariation UNIPROT

dbSNP: rs142637152
rs142637152
APC
0.010 GeneticVariation BEFREE Biallelic mutations in MUTYH gene were detected in 3/12 (25%) remaining subjects with polyposis and in 6/90 (6.7%) patients with colorectal cancer (CRC) carrying KRAS p.G12C substitution, but not in 231 early-onset CRC cases negative for KRAS p.G12C allele. 29406563

2018
dbSNP: rs145945630
rs145945630
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE Furthermore, APC I1307K carriers had greater numbers of adenomas and colorectal cancers per patient than noncarriers. 17854661

2007
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE The I1307K APC polymorphism/mutation is carried by 6-8% of Ashkenazim and increases the risk of colorectal cancer 1.5-2 fold. 15516844

2004
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE To determine the carrier rate of the I1307K mutation in Ashkenazi Jewish patients with a history of colorectal polyps but without colorectal cancer and to compare phenotypic characteristics and family history of carriers vs noncarriers. 10938175

2000
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE An association between a missense mutation, APC I1307K, and the risk of sporadic colorectal cancer (CRC) has been reported. 22180177

2012
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. 11159880

2001
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE Prevalence of the I1307K variant was not significantly different among individuals with IBD, Crohn's disease, ulcerative colitis, and unaffected relatives (6.9%, 7.6%, 4.7%, and 6.2%, respectively), and the mutation was detected in only one of five IBD-affected individuals with a diagnosis of CRC. 11354631

2001
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE While the I1307K APC mutation clearly confers an increased lifetime risk for colorectal cancer, there is a paucity of data on the natural history of colonic neoplasia in symptomatic and asymptomatic mutation carriers. 15733272

2005
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE The I1307K APC variant may represent a susceptibility gene for colorectal, or other, cancers in Ashkenazi Jews, and partially explains the higher incidence of colorectal cancer in European Israelis. 9869602

1999
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE We suggest that the I1307K mutation may contribute to CRC in Israeli Arabs and that inactivating mutations of MSH2 and MLH1 may not be a major cause for early onset CRC. 12655564

2003
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE Our data show that the I1307K variant is rare in the Norwegian population and should not be viewed as a candidate for susceptibility testing for colorectal cancer. 9679946

1998
dbSNP: rs1463038513
rs1463038513
APC
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
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE Here, we used this design to evaluate inherited susceptibility to prostate cancer associated with APC I1307K using data from the Molecular Epidemiology of Colorectal Cancer study. 16537703

2006
dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379

2013