|
rs1801155
|
|
|
0.800 |
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 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
A |
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 |
|
rs1801155
|
|
|
0.800 |
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 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, compared with noncarriers, APC I1307K carriers had increased numbers of adenomas and colorectal cancers per patient (P=.03), as well as a younger age at diagnosis.
|
9973276 |
1999 |
|
rs1801155
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, APC I1307K carriers had greater numbers of adenomas and colorectal cancers per patient than noncarriers.
|
17854661 |
2007 |
|
rs1801155
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The I1307K variant was found in 32 subjects with non-CRC (7.9%).
|
17920230 |
2007 |
|
rs1801155
|
|
A |
0.800 |
SusceptibilityMutation |
CLINVAR |
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 |
|
rs1801155
|
|
A |
0.800 |
SusceptibilityMutation |
CLINVAR |
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
|
9724771 |
1998 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
0.800 |
GeneticVariation |
BEFREE |
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.
|
11159880 |
2001 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
A |
0.800 |
SusceptibilityMutation |
CLINVAR |
The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
|
23896379 |
2013 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds.
|
9407954 |
1997 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
0.800 |
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 |
|
rs1801155
|
|
|
0.800 |
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 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
A |
0.800 |
SusceptibilityMutation |
CLINVAR |
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.
|
9288102 |
1997 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
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 |