rs11954856
|
|
|
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 |
rs11954856
|
|
|
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 |
rs121913224
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121913327
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121913331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The nonsense mutation Arg1114X in APC gene was found in five of 43 CRC tumor tissues.
|
17653897 |
2007 |
rs1268298845
|
|
|
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 |
rs137854573
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137854575
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137854580
|
|
|
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 |
rs1400295986
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs142637152
|
|
|
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 |
rs145945630
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, APC I1307K carriers had greater numbers of adenomas and colorectal cancers per patient than noncarriers.
|
17854661 |
2007 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.
|
11159880 |
2001 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
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 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
|
23896379 |
2013 |