rs1801155, APC

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Four hundred two patients (89.3%) had MMR-proficient tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic MUTYH; 1, SMAD4); 13 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (3, ATM; 1, ATM/CHEK2; 2, BRCA1; 4, BRCA2; 1, CDKN2A; 2, PALB2); 10 patients had mutations in low-penetrance CRC genes (3, APC c.3920T>A, p.I1307K; 7, monoallelic MUTYH). 27978560 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 SusceptibilityMutation CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Furthermore, APC I1307K carriers had greater numbers of adenomas and colorectal cancers per patient than noncarriers. 17854661 2007
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE The I1307K variant was found in 32 subjects with non-CRC (7.9%). 17920230 2007
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE We could find no group of Ashkenazi Jews with colorectal cancer for whom screening for I130</span>7K would be clinically useful. 16875934 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE There was no significant difference noted between I1307K carriers and noncarriers with regard to the percentage of patients with first-degree relatives with colorectal carcinoma. 15959913 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE The I1307K mutation is associated with a moderate excess risk for CRC, but age of onset seems not to be earlier and this variant is not associated with a multiple colonic polyp phenotype. 15929773 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE In conclusion, the molecular pathways in CRC in I1307K APC mutation carriers are seemingly similar to those of sporadic cases, but a larger study is clearly needed. 12822869 2003
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE There is inconsistent evidence as to whether or not I1307K confers an increased risk of colorectal cancer. 12533824 2003
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 SusceptibilityMutation CLINVAR To further address the pathogenic significance of I1307K, we offered both a genetic test and a screening program to individuals considered to be at increased risk for colorectal cancer. 11159880 2001
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. 11159880 2001
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases. 11720476 2001
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE A missense mutation within the APC gene, I1307K, was described in Ashkenazi individuals at risk for colorectal cancer (CRC) and in the general population. 11551102 2001
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 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