rs121913331
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Arg1114X in APC gene, as a hot spot mutation in Chinese CRC, may predispose to the cancer metastasis of sporadic CRC.
|
17653897 |
2007 |
rs121913331
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |
rs1322051434
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K.
|
9585599 |
1998 |
rs1439772141
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Even rarer is the 1906G-->C MSH2 mutation carried by less than 1% of Ashkenazim, but as with other HNPCC mutations likely associated with a high risk of malignancy.
|
15516844 |
2004 |
rs1441008398
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, a germline missense mutation, I1307K, was identified in the adenomatous polyposis coli (APC) gene that was suggested to increase cancer predisposition in Ashkenazi Jews.
|
9869603 |
1999 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.
|
9973276 |
1999 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of the APC gene, familial adenomatous polyposis, attenuated familial adenomatous polyposis, Peutz Jeghers syndrome, juvenile polyposis, and the PTEN hamartoma tumor syndrome.
|
11005140 |
2000 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We analyzed sex, age, family history, personal history, and gene test results of patients at increased risk for cancer who sought cancer risk counseling at the Johns Hopkins (JH) CRC Risk Assessment Clinic (n = 91), and those submitting samples to the JH Pathology Molecular Diagnostic Laboratory (n = 256) for APC I1307K testing.
|
10756345 |
2000 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, the APC I1307K variant is a reliable marker for overall cancer risk (OR 2.53).
|
26421687 |
2016 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There is currently only sporadic clinical genetic testing offered for this variant, as neither the exact increase in cancer risk and therefore the appropriate screening strategies for I1307K carriers, nor the acceptability of such testing in Jewish communities have been determined.
|
16195945 |
2005 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The I1307K mutation of the adenopolyposis coli gene (APC), located on chromosome 5q21-q22, is associated with an increased risk of cancer in Ashkenazi Jews.
|
11106824 |
2000 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the Ashkenazi Jewish population, the I1307K allele is unlikely to increase the risk of ovarian cancer or of cancer in general.
|
9679945 |
1998 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, in this family, there appears to be no relationship between the I1307K polymorphism and the presence or absence of cancer.
|
9831355 |
1998 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The I1307K mutation represents a novel paradigm for cancer-predisposing genes, as it is associated with moderately increased risk of neoplasia without other associated distinguishing phenotypic features.JAMA.2000;284:857-860
|
10938175 |
2000 |
rs1463038513
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that early age at diagnosis and family history of cancer cannot be used to predict who is likely to harbour the I1307K APC germline mutation carriers.
|
11720476 |
2001 |
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 |
An APC mutation (I1307K) was found in an index case of a non-Jewish woman and her son with attenuated familial adenomatous polyposis (A-FAP) and no family history of cancer.
|
22180177 |
2012 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry.
|
10901363 |
2000 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey.
|
9731533 |
1998 |
rs1463038513
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One of the cancers associated with the I1307K mutation is prostate cancer (odds ratio 2.0, P = 0.14).
|
12856637 |
2003 |
rs1801155
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The I1307K mutation represents a novel paradigm for cancer-predisposing genes, as it is associated with moderately increased risk of neoplasia without other associated distinguishing phenotypic features.JAMA.2000;284:857-860
|
10938175 |
2000 |
rs1801155
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry.
|
10901363 |
2000 |
rs1801155
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We analyzed sex, age, family history, personal history, and gene test results of patients at increased risk for cancer who sought cancer risk counseling at the Johns Hopkins (JH) CRC Risk Assessment Clinic (n = 91), and those submitting samples to the JH Pathology Molecular Diagnostic Laboratory (n = 256) for APC I1307K testing.
|
10756345 |
2000 |