|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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
|
|
Colorectal Carcinoma
|
|
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
|
|
Colorectal Carcinoma
|
|
0.100 |
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
0.100 |
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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
|
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
There is inconsistent evidence as to whether or not I1307K confers an increased risk of colorectal cancer.
|
12533824 |
2003 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Furthermore, APC I1307K carriers had greater numbers of adenomas and colorectal cancers per patient than noncarriers.
|
17854661 |
2007 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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
|
|
Colorectal Carcinoma
|
|
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The I1307K variant was found in 32 subjects with non-CRC (7.9%).
|
17920230 |
2007 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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
|
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.
|
11720476 |
2001 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation.
|
10756345 |
2000 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
|
23896379 |
2013 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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
|
|
Colorectal Carcinoma
|
|
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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
|
|
Colorectal Carcinoma
|
|
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
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
|
|
Colorectal Carcinoma
|
|
0.100 |
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 |
|
rs1463038513
|
|
Colorectal Carcinoma
|
|
0.100 |
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 |