|
rs1801155
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers.
|
12822869 |
2003 |
|
rs6983267
|
|
|
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
|
|
T |
0.770 |
GeneticVariation |
GWASCAT |
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
|
30104761 |
2018 |
|
rs6983267
|
|
G |
0.770 |
GeneticVariation |
GWASCAT |
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.
|
17618284 |
2007 |
|
rs6983267
|
|
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
|
|
|
0.770 |
GeneticVariation |
BEFREE |
The combined results for our two studies of colon cancer showed an OR of 1.10 (95% CI: 1.01-1.20, Ptrend = 0.023), and a meta-analysis of our results with previously reported studies of colon and colorectal cancer strongly support the association for this SNP (combined OR for rs6983267 = 1.21, 95% CI: 1.18-1.24, p = 5.5 × 10-44).
|
21129217 |
2010 |
|
rs6983267
|
|
G |
0.770 |
GeneticVariation |
GWASCAT |
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
|
23266556 |
2013 |
|
rs6983267
|
|
G |
0.770 |
GeneticVariation |
GWASCAT |
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
|
29917119 |
2019 |
|
rs6983267
|
|
|
0.770 |
GeneticVariation |
GWASCAT |
GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.
|
29471430 |
2018 |
|
rs6983267
|
|
G |
0.770 |
GeneticVariation |
GWASCAT |
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
|
24836286 |
2014 |
|
rs6983267
|
|
G |
0.770 |
GeneticVariation |
GWASCAT |
Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
|
26151821 |
2015 |
|
rs6983267
|
|
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
|
|
G |
0.770 |
GeneticVariation |
GWASCAT |
Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population.
|
21242260 |
2011 |
|
rs6983267
|
|
G |
0.770 |
GeneticVariation |
GWASCAT |
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
|
31089142 |
2019 |
|
rs6983267
|
|
|
0.770 |
GeneticVariation |
BEFREE |
These data replicate the association identified from recent studies, providing additional evidence supporting the rs6983267 genetic polymorphism as a marker predisposing to colon cancer.
|
18268117 |
2008 |
|
rs6983267
|
|
|
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 |