Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909174
rs121909174
0.010 GeneticVariation BEFREE Because two cases with homozygous T354P mutation developed multinodular goiters within their second decade of life though they had been maintained in euthyroid state, homozygous T354P mutation alone and/or low intrathyroidal iodide and high serum TSH level in early life might account for tumorigenesis. 9709973

1998

dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE To assess the role in tumorigenesis of the variant (A)8 tract produced by this allele, we undertook a somatic mutation analysis of the region surrounding codon 1307 in colorectal tumors from APC I1307K carriers. 9751605

1998

dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE To assess the role in tumorigenesis of the variant (A)8 tract produced by this allele, we undertook a somatic mutation analysis of the region surrounding codon 1307 in colorectal tumors from APC I1307K carriers. 9751605

1998

dbSNP: rs138106763
rs138106763
0.010 GeneticVariation BEFREE Intriguingly, the subclass exemplified by the melanoma-derived N50S mutant may promote tumorigenesis, by both attenuating CDK-inhibitory function and concomitantly activating the proto-oncogenic cyclin D-dependent kinases. 9823309

1998

dbSNP: rs866551255
rs866551255
0.010 GeneticVariation BEFREE Intriguingly, the subclass exemplified by the melanoma-derived N50S mutant may promote tumorigenesis, by both attenuating CDK-inhibitory function and concomitantly activating the proto-oncogenic cyclin D-dependent kinases. 9823309

1998

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Our findings support the hypothesis that MTHFR C677T variants contribute to gastric carcinogenesis, particularly in gastric cardia. 11494235

2001

dbSNP: rs1805007
rs1805007
0.010 GeneticVariation BEFREE These findings suggest that the R151C variant may be involved in melanoma tumorigenesis in a dual manner, both as a determinant of fair skin and as a component in an independent additional pathway. 11500806

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: rs11547328
rs11547328
0.020 GeneticVariation BEFREE Germ line transmission of the Cdk4(R24C) mutation facilitates tumorigenesis and escape from cellular senescence. 11756559

2002

dbSNP: rs771138120
rs771138120
0.020 GeneticVariation BEFREE Germ line transmission of the Cdk4(R24C) mutation facilitates tumorigenesis and escape from cellular senescence. 11756559

2002

dbSNP: rs121913507
rs121913507
KIT
0.010 GeneticVariation BEFREE However, the signal transduction pathways responsible for oncogenesis by the Asp814Val mutant (KIT(Val814)) are not fully understood. 12393643

2003

dbSNP: rs121913682
rs121913682
KIT
0.010 GeneticVariation BEFREE However, the signal transduction pathways responsible for oncogenesis by the Asp814Val mutant (KIT(Val814)) are not fully understood. 12393643

2003

dbSNP: rs121965039
rs121965039
OAT
0.010 GeneticVariation BEFREE To probe the mechanism of carcinogenesis of lung cancer at the molecular level and to find potential protein markers involved in the early phase of tumorgenesis, differential proteome analysis on primary passage cell line R15H, and early transformed cell line R15H20 derived from (238)Pu alpha-particle irradiation of human papillomavirus (HPV) 18-immortalized human bronchial epithelial cell line (BEP2D), was carried out using two-dimensional electrophoresis (2-DE) and peptide mass fingerprinting (PMF) with matrix-assisted laser desorption/ionisation-time of flight mass spectrometry. 12548635

2003

dbSNP: rs146755810
rs146755810
OAT
0.010 GeneticVariation BEFREE To probe the mechanism of carcinogenesis of lung cancer at the molecular level and to find potential protein markers involved in the early phase of tumorgenesis, differential proteome analysis on primary passage cell line R15H, and early transformed cell line R15H20 derived from (238)Pu alpha-particle irradiation of human papillomavirus (HPV) 18-immortalized human bronchial epithelial cell line (BEP2D), was carried out using two-dimensional electrophoresis (2-DE) and peptide mass fingerprinting (PMF) with matrix-assisted laser desorption/ionisation-time of flight mass spectrometry. 12548635

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The aim of the study was to investigate the role of MTHFR 677 C-->T gene polymorphism in the tumorigenesis of proximal and distal CLC in a monoinstitutional group of patients in North Italy. 12576444

2003

dbSNP: rs1048943
rs1048943
0.020 GeneticVariation BEFREE Our study therefore suggests that the CYP1A1 Ile(462)Val variant allele might play a role in lung carcinogenesis among non-smokers, possibly in combination with the GSTM1 null genotype. 12771031

2003

dbSNP: rs11547328
rs11547328
0.020 GeneticVariation BEFREE These data suggest that the changes in the regulatory 'hot-spot' on the CDK4 gene, causing various endocrine tumours in CDK4(R24C/R24C )mice, are not a major factor in sporadic pituitary, insulin beta-cell or Leydig cell tumorigenesis. 12904177

2003

dbSNP: rs771138120
rs771138120
0.020 GeneticVariation BEFREE These data suggest that the changes in the regulatory 'hot-spot' on the CDK4 gene, causing various endocrine tumours in CDK4(R24C/R24C )mice, are not a major factor in sporadic pituitary, insulin beta-cell or Leydig cell tumorigenesis. 12904177

2003

dbSNP: rs1801166
rs1801166
APC
0.020 GeneticVariation BEFREE However, when we used normal colonoscopy controls (E1317Q carrier frequency = 0.3%), the prevalence of E1317Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC patients with intact mismatch repair status, suggesting a possible role for E1317Q in colorectal tumorigenesis. 14578138

2003

dbSNP: rs17227424
rs17227424
0.010 GeneticVariation BEFREE Absence of the wild-type allele in tumors carrying the E530D variant suggests a possible role for this change in tumorigenesis. 14605947

2003

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE These results suggest that the B-Raf activation segment mutations other than V599E reported in colorectal tumors do not necessarily contribute to carcinogenesis by increasing kinase and transforming activities. 14678966

2003

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE These results suggest that the B-Raf activation segment mutations other than V599E reported in colorectal tumors do not necessarily contribute to carcinogenesis by increasing kinase and transforming activities. 14678966

2003

dbSNP: rs1799782
rs1799782
0.030 GeneticVariation BEFREE The findings of the effect modification of the Arg(194)Trp on the relations of plasma alpha- and beta-carotene levels with breast cancer risk suggest a potential protective effect of carotenoids in breast carcinogenesis by preventing oxidative DNA damage. 14679022

2003

dbSNP: rs121913529
rs121913529
0.100 GeneticVariation BEFREE To evaluate the role of oncogenic RAS mutations in pancreatic tumorigenesis, we directed endogenous expression of KRAS(G12D) to progenitor cells of the mouse pancreas. 14706336

2003

dbSNP: rs25487
rs25487
0.030 GeneticVariation BEFREE Our data are consistent with a potential role of the XRCC1 Arg399Gln polymorphism in bladder cancer susceptibility and further suggest that there may be DNA lesions important in bladder carcinogenesis, repaired by the base excision repair mechanism, that are not directly associated with tobacco smoking. 15298955

2004