Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801155
rs1801155
APC
0.800 GeneticVariation BEFREE The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379

2013

dbSNP: rs1801155
rs1801155
APC
0.800 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: rs1801155
rs1801155
APC
0.800 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: rs1801155
rs1801155
APC
0.800 GeneticVariation BEFREE I1307K is a founder genetic variant in Jews of different ethnic origin, mainly Ashkenazim, but it explains only partially their higher incidence of colorectal carcinoma. 12173321

2002

dbSNP: rs1801155
rs1801155
APC
0.800 GeneticVariation BEFREE This excess can partially be attributed to inherited factors that are over represented in this population, such as the APC variant I1307K, which is associated with a modest increase in colorectal cancer risk. 16195945

2005

dbSNP: rs1801155
rs1801155
APC
0.800 GeneticVariation BEFREE There is inconsistent evidence as to whether or not I1307K confers an increased risk of colorectal cancer. 12533824

2003

dbSNP: rs1801155
rs1801155
APC
0.800 GeneticVariation BEFREE Interestingly, the I1307K APC polymorphism, associated with an increased risk of colorectal cancer, is also present in this family. 9831355

1998

dbSNP: rs1801155
rs1801155
APC
0.800 GeneticVariation BEFREE The I1307K allele was found in 6.1% of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC (ref.2). 9731533

1998

dbSNP: rs1801155
rs1801155
APC
0.800 GeneticVariation BEFREE An association between a missense mutation, APC I1307K, and the risk of sporadic colorectal cancer (CRC) has been reported. 22180177

2012

dbSNP: rs62619935
rs62619935
APC
0.710 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: rs779998847
rs779998847
APC
0.700 GeneticVariation UNIPROT

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