Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE We evaluated the association of the Arg72Pro polymorphism with skin cancer risk among Caucasians in a nested case-control study within the Nurses' Health Study (NHS) (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) and 874 controls). 16739124

2006

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE We evaluated the association of the Arg72Pro polymorphism with skin cancer risk among Caucasians in a nested case-control study within the Nurses' Health Study (NHS) (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) and 874 controls). 16739124

2006

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE We evaluated the association of the Arg72Pro polymorphism with skin cancer risk among Caucasians in a nested case-control study within the Nurses' Health Study (NHS) (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) and 874 controls). 16739124

2006

dbSNP: rs563378859
rs563378859
0.030 GeneticVariation BEFREE We previously showed that mice carrying an activated Cdk4 mutation together with melanocyte-specific mutant Hras (Cdk4(R24C/R24C)/TPras) develop melanoma spontaneously, but penetrance is increased and age of onset reduced after neonatal ultraviolet radiation (UVR) exposure. 18386818

2008

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Prospectively enrolled melanoma patients (N = 227) were evaluated for MDM2 SNP309 and the related polymorphism, p53 Arg72Pro. 19318491

2009

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. 18814047

2009

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE Prospectively enrolled melanoma patients (N = 227) were evaluated for MDM2 SNP309 and the related polymorphism, p53 Arg72Pro. 19318491

2009

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. 18814047

2009

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. 18814047

2009

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE Prospectively enrolled melanoma patients (N = 227) were evaluated for MDM2 SNP309 and the related polymorphism, p53 Arg72Pro. 19318491

2009

dbSNP: rs762846821
rs762846821
0.020 GeneticVariation BEFREE We detected the p.Gly23Asp missense mutation in one of the two tested melanoma patients of a family with three melanoma cases. 19712690

2009

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE No associations were found among the SNP309, Arg72Pro, risk of CM, age at diagnosis and presence of metastasis in total subjects and when stratified according to the gender. 20535124

2010

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE No associations were found among the SNP309, Arg72Pro, risk of CM, age at diagnosis and presence of metastasis in total subjects and when stratified according to the gender. 20535124

2010

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE No associations were found among the SNP309, Arg72Pro, risk of CM, age at diagnosis and presence of metastasis in total subjects and when stratified according to the gender. 20535124

2010

dbSNP: rs28934578
rs28934578
0.020 GeneticVariation BEFREE Since mutations in the p53 tumor suppressor gene contribute to drug resistance, we used genetically-matched human C8161 melanoma harbouring wt or DN-R175H mutant p53, to investigate the influence of p53 status on the potentiation of H(2)O(2) toxicity by: (a) intact sodium nitroprusside or nitroferricyanide (SNP), (b) its light-exhausted NO-depleted form (lex-SNP), (c) potassium ferricyanide, or (d) ferric ammonium sulphate. 20674559

2010

dbSNP: rs770374782
rs770374782
0.020 GeneticVariation BEFREE A somatic, heterozygous IDH1 c.C394T (p.R132C) mutation was identified in one human melanoma metastasis to the lung. 20603105

2010

dbSNP: rs28934578
rs28934578
0.020 GeneticVariation BEFREE Since tumor cells face glucose and growth factor shortage when growing distant from sites of vascularization, we used genetically-matched human C8161 melanoma harbouring wt p53 or a tumor-associated (DN) mutant p53 (R175H), to investigate whether this mutation influences survival under metabolic stress. 21832879

2011

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports. 22336942

2012

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports. 22336942

2012

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE In melanoma, the effects for SNP309 and the related tumor protein p53 (TP53) Arg72Pro are inconsistent among published reports. 22336942

2012

dbSNP: rs749817236
rs749817236
0.010 GeneticVariation BEFREE A number of potentially important mutation events occurred in TFG including the identification of a mini mutation "hotspot" at amino acid residue 380 (P380S and P380L) and the presence of multiple mutations in two melanomas. 22250051

2012

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. 23568549

2013

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. 23568549

2013

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. 23568549

2013

dbSNP: rs121912654
rs121912654
0.020 GeneticVariation BEFREE Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. 23568549

2013