|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.
|
9973276 |
1999 |
|
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 |
To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey.
|
9731533 |
1998 |
|
rs1801155
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey.
|
9731533 |
1998 |
|
rs1801155
|
|
|
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 |
|
rs1801155
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs876660427
|
|
|
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 |
|
rs459552
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI=1.02-1.60) and 1.34 (CI=1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect.
|
20149637 |
2010 |
|
rs777980327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The increased incidence of cancer in FDRs of index CRC patients with the p.V600E BRAF mutation may be explained by a genetic predisposition to develop cancer through the serrated pathway of colorectal carcinogenesis.
|
20570909 |
2010 |
|
rs781561221
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI=1.02-1.60) and 1.34 (CI=1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect.
|
20149637 |
2010 |
|
rs559313229
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Frequency of the c.2260G>C (p.Ala754Pro) variant in isoform IV of the PML gene was higher in patients with colon polyposis and cancer than in the control group (P = 0.029).
|
19728758 |
2009 |
|
rs587783032
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Frequency of the c.2260G>C (p.Ala754Pro) variant in isoform IV of the PML gene was higher in patients with colon polyposis and cancer than in the control group (P = 0.029).
|
19728758 |
2009 |
|
rs762117133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To determine if this finding could be replicated, we investigated the association between two FRZB polymorphisms (Arg324Gly and Arg200Trp) and the risk of colorectal adenoma and cancer in nested case-control studies.
|
19067193 |
2009 |
|
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 |
|
rs755105138
|
|
|
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 |
|
rs1322051434
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K.
|
9585599 |
1998 |