rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia.
|
15507235 |
2004 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers.
|
12822869 |
2003 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
The I1307K variant was analyzed in 242 eligible respondents who were selected because they had a personal or family history of colon cancer.
|
11159880 |
2001 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
The I1307K polymorphism, therefore, exists in all ethnic Jewish populations: Ashkenazi and non-Ashkenazi, with or without colon cancer.
|
11551102 |
2001 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
Studies such as those on APC I1307K and CHEK2 1100delC may suggest the way forward for the identification of 'breast-colon cancer' genes.
|
14574178 |
2001 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
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 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with gastric carcinoma (13 MSI-H and 44 MSI-negative), or ten patients with sporadic MSI-H colon cancer.
|
10445854 |
1999 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
However, a second study indicated that the I1307K mutation did not contribute greatly to the risk of colon cancer in Ashkenazi breast-ovarian cancer families, and a role of mismatch repair deficiency was suggested.
|
9869603 |
1999 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
We have shown that the family's phenotype does not result from APC mutations (including the I1307K variant) or from genetic changes in the other known genes that predispose to colon cancer.
|
10092300 |
1999 |
rs1801155
|
|
Malignant tumor of colon
|
|
0.800 |
GeneticVariation
|
BEFREE |
Significantly, of the 12 individuals who possessed the I1307K mutation, none was diagnosed with colorectal cancer and none had a known first-, second-, or third-degree relative diagnosed with colon cancer.
|
9407954 |
1997 |
rs1801155
|
|
Malignant tumor of colon
|
A |
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.
|
30529582 |
2019 |
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
|
29917119 |
2019 |
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
|
31089142 |
2019 |
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Discovery of common and rare genetic risk variants for colorectal cancer.
|
30510241 |
2019 |
rs6983267
|
|
Malignant tumor of colon
|
T |
0.770 |
GeneticVariation
|
GWASCAT |
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
|
30104761 |
2018 |
rs6983267
|
|
Malignant tumor of colon
|
|
0.770 |
GeneticVariation
|
GWASCAT |
GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
|
29471430 |
2018 |
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
|
28960316 |
2018 |
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.
|
26965516 |
2016 |
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
|
26151821 |
2015 |
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
|
24836286 |
2014 |
rs6983267
|
|
Malignant tumor of colon
|
|
0.770 |
GeneticVariation
|
BEFREE |
A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3).
|
23434150 |
2013 |
rs6983267
|
|
Malignant tumor of colon
|
G |
0.770 |
GeneticVariation
|
GWASCAT |
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
|
23266556 |
2013 |
rs6983267
|
|
Malignant tumor of colon
|
|
0.770 |
GeneticVariation
|
BEFREE |
Rectal tumors were significantly associated with rs4939827 (OR = 4.85, P = 0.002) and rs6983267 (OR = 3.00, P = 0.036), suggesting that carriers of risk alleles at these loci had increased susceptibility to development of rectal cancer rather than colon cancer.
|
22457859 |
2012 |
rs6983267
|
|
Malignant tumor of colon
|
|
0.770 |
GeneticVariation
|
BEFREE |
The two SNPs did not influence the development of distant metastases of colon cancer; rs6983267 showed a mild effect on breast cancer.
|
22666420 |
2012 |