Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The conclusion is that the APC I1307K variant leads to increased adenoma formation and colorectal cancer. 17854661

2007

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE We could find no group of Ashkenazi Jews with colorectal cancer for whom screening for I1307K would be clinically useful. 16875934

2006

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
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: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Together with former evidence of I1307K being a risk factor for colorectal cancer, these data suggest that colonoscopic surveillance for colorectal adenomas and cancer may be warranted in I1307K carriers, even in the absence of other identifiable risk factors. 16228836

2005

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 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
Malignant neoplasm of colon and/or rectum
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: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
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: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 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
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The I1307K allele of the APC gene has been shown to confer a modestly elevated risk of colorectal cancer in the Ashkenazi Jewish population (relative risk, 1.5-1.7). 11159880

2001

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
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: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
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: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Our findings support the hypothesis that the I1307K mutation is unique to the Ashkenazi Jews, contributes to tumor predisposition in colorectal cancer, and is unrelated to mismatch repair deficiency. 9869603

1999

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
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: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE We conclude that the APC I1307K variant leads to increased adenoma formation and directly contributes to 3%-4% of all Ashkenazi Jewish colorectal cancer. 9973276

1999

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The I1307K polymorphism in APC has been found to predispose to colorectal cancer in Ashkenazi Jews, and has recently been associated with an increased risk for breast cancer in the same population. 10555757

1999

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE An adenomatous polyposis coli (APC) gene variant (I1307K allele), which was recently reported in 1 in 17 Ashkenazi Jewish persons, may double the risk for colorectal cancer in that population. 10343885

1999

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
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: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Among the 1087 first-degree relatives, there were 23 cases of colorectal cancer; 3 of 100 relatives of probands with the I1307K allele (3.0%) had a history of colorectal cancer versus 20 of 987 relatives of probands without the I1307K allele (2.1%; relative risk, 1.48; 95% confidence interval, 0.45-4.88; P = 0.462). 9679945

1998

dbSNP: rs1801155
rs1801155
APC
Malignant neoplasm of colon and/or rectum
0.100 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
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds. 9407954

1997