Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1463038513
rs1463038513
APC
0.100 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

dbSNP: rs1801155
rs1801155
APC
0.100 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

dbSNP: rs1463038513
rs1463038513
APC
0.100 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

dbSNP: rs1463038513
rs1463038513
APC
0.100 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

dbSNP: rs1463038513
rs1463038513
APC
0.100 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

dbSNP: rs1801155
rs1801155
APC
0.100 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

dbSNP: rs1801155
rs1801155
APC
0.100 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

dbSNP: rs1801155
rs1801155
APC
0.100 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

dbSNP: rs1463038513
rs1463038513
APC
0.100 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

dbSNP: rs1801155
rs1801155
APC
0.100 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

dbSNP: rs121913314
rs121913314
SRC
0.010 GeneticVariation BEFREE A recent report suggested that the risk of colon cancer is higher for those who carry a C-->T transition mutation on codon 531 (Gln-531-->Amber-531) of src gene. 10704743

2000

dbSNP: rs1463038513
rs1463038513
APC
0.100 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

dbSNP: rs1463038513
rs1463038513
APC
0.100 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

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE The I1307K polymorphism, therefore, exists in all ethnic Jewish populations: Ashkenazi and non-Ashkenazi, with or without colon cancer. 11551102

2001

dbSNP: rs1801155
rs1801155
APC
0.100 GeneticVariation BEFREE The I1307K polymorphism, therefore, exists in all ethnic Jewish populations: Ashkenazi and non-Ashkenazi, with or without colon cancer. 11551102

2001

dbSNP: rs1801155
rs1801155
APC
0.100 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

dbSNP: rs1801155
rs1801155
APC
0.100 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

dbSNP: rs1017621656
rs1017621656
0.010 GeneticVariation BEFREE We now show that stable expression of oncogenic Ki-ras(G12V) c</span>onverts the HD6-4 colon cancer cell line from insensitive to TGF-beta1 to growth-promoted by TGF-beta1. 11029459

2001

dbSNP: rs1205454520
rs1205454520
0.010 GeneticVariation BEFREE We now show that stable expression of oncogenic Ki-ras(G12V) c</span>onverts the HD6-4 colon cancer cell line from insensitive to TGF-beta1 to growth-promoted by TGF-beta1. 11029459

2001

dbSNP: rs35187787
rs35187787
0.010 GeneticVariation BEFREE However, the fact that this alteration (Ala592Thr) segregated with colon cancer and diffuse gastric cancer in one big family, suggests that this E-cadherin missense alteration, beside predisposing to diffuse gastric cancer, also may play a role in colorectal carcinogenesis. 11562785

2001

dbSNP: rs459552
rs459552
APC
0.010 GeneticVariation BEFREE We used data collected as part of a multicenter study of 1,585 incident cases of colon cancer and 1,945 age- and sex-matched population-based controls to evaluate genetic, dietary, and environmental associations with the D1822V [corrected] variant of the APC gene. 11221825

2001

dbSNP: rs4994
rs4994
0.010 GeneticVariation BEFREE Analysis of a subgroup with a higher body mass index showed that the Trp64Arg variant increased the OR (2.63; 95% confidence interval, 1.13-6.11) for colon cancer, but not for rectal cancer, compared with the Trp64 genotype. 11706779

2001

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The MTHFR polymTHFR polymorphisms, especially the 677C-->T mutation, may contribute to vascular and birth defect risks, while reducing the risk of certain malignancies, such as colon cancer. 14633777

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north Italy. 12576444

2003

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. 12822869

2003