|
rs1801155
|
|
|
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 |
|
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 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.
|
11720476 |
2001 |
|
rs1801155
|
|
|
0.800 |
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 |
Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.
|
11720476 |
2001 |
|
rs1463038513
|
|
|
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
|
|
|
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 |
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.
|
11159880 |
2001 |
|
rs1801166
|
|
|
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 |
|
rs1801155
|
|
|
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 |
|
rs1463038513
|
|
|
0.100 |
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 |
|
rs1801166
|
|
|
0.100 |
GeneticVariation |
BEFREE |
None of the subjects with a family history of colorectal cancer carried the E1317Q variant.
|
12537656 |
2002 |
|
rs770649674
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote.
|
12393807 |
2002 |
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
There is inconsistent evidence as to whether or not I1307K confers an increased risk of colorectal cancer.
|
12533824 |
2003 |
|
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 |
|
rs1463038513
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There is inconsistent evidence as to whether or not I1307K confers an increased risk of colorectal cancer.
|
12533824 |
2003 |
|
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 |
|
rs1801166
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, when we used normal colonoscopy controls (E1317Q carrier frequency = 0.3%), the prevalence of E1317Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC patients with intact mismatch repair status, suggesting a possible role for E1317Q in colorectal tumorigenesis.
|
14578138 |
2003 |
|
rs459552
|
|
|
0.070 |
GeneticVariation |
BEFREE |
It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma.
|
14616385 |
2003 |
|
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 |
|
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 |