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 |
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 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 |
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 |
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 |
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 |
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 |
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
|
|
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 |
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 |
This result replicates previous reports of association between rs6983267 and prostate and colon cancer.
|
22142333 |
2011 |
rs6983267
|
|
Malignant tumor of colon
|
|
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
|
|
Malignant tumor of colon
|
|
0.770 |
GeneticVariation
|
BEFREE |
We observed significant associations with colon cancer risk with markers rs13254738 (ordinal odds ratio, 0.82; 95% confidence interval, 0.072-0.94; P(trend) = 0.0037) and rs6983267 (ordinal odds ratio, 1.17; 95% confidence interval, 1.03-1.32, P(trend) = 0.013).
|
19690179 |
2009 |
rs6983267
|
|
Malignant tumor of colon
|
|
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 |
rs4939827
|
|
Malignant tumor of colon
|
|
0.750 |
GeneticVariation
|
BEFREE |
Both the SMAD7 rs4939827 TT genotype and the CHI3L1 rs4950928 C allele were associated with the rectal but not the colon cancer.
|
26779637 |
2016 |
rs4939827
|
|
Malignant tumor of colon
|
|
0.750 |
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 |
rs4939827
|
|
Malignant tumor of colon
|
|
0.750 |
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 |
rs4939827
|
|
Malignant tumor of colon
|
|
0.750 |
GeneticVariation
|
BEFREE |
The odds ratios between SMAD7 and colon cancer among individuals reporting recent aspirin/nonsteroidal anti-inflammatory drug use was 0.60 (95% CI, 0.43-0.85) for the CC genotype of the rs4939827 polymorphism and 1.69 (95% CI, 1.20-2.38) for the TT genotype of the rs1295371 polymorphism.
|
20124488 |
2010 |
rs4939827
|
|
Malignant tumor of colon
|
|
0.750 |
GeneticVariation
|
BEFREE |
Risk was greater for rectal than for colon cancer for rs3802842 (P < 0.008) and rs4939827 (P < 0.009).
|
18372901 |
2008 |
rs10795668
|
|
Malignant tumor of colon
|
|
0.720 |
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 |
rs10795668
|
|
Malignant tumor of colon
|
|
0.720 |
GeneticVariation
|
BEFREE |
Furthermore, we found that rs10795668 was associated with increased risk only in rectal cancer but not colon cancer, and rs3802842 was also significantly associated with advanced stages of CRC.
|
20530476 |
2010 |
rs3802842
|
|
Malignant tumor of colon
|
|
0.720 |
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 |