Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852789
rs137852789
0.010 GeneticVariation BEFREE Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation. 27863474

2016

dbSNP: rs121913343
rs121913343
0.010 GeneticVariation BEFREE Two new mutations, the G542E exon 12 mutation variant of the FGFR2 gene and the R273C mutation variant of the p53 gene, are reported for the first time in BRAF mutant melanoma. 24858661

2014

dbSNP: rs1453167097
rs1453167097
0.010 GeneticVariation BEFREE Our results showed for the first time that polymorphisms in p27 Val109Gly and in prohibitin 3'UTR C1703T genotypes modulate the risk to melanoma in a high UV index region. 23624368

2013

dbSNP: rs78378222
rs78378222
0.010 GeneticVariation BEFREE Association between a rare novel TP53 variant (rs78378222) and melanoma, squamous cell carcinoma of head and neck and lung cancer susceptibility in non-Hispanic Whites. 23742673

2013

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: rs770374782
rs770374782
0.020 GeneticVariation BEFREE Melanomas from 10 separate patients (4.9%) were positive for IDH1 R132C (nine) or R132S (one). 30003571

2018

dbSNP: rs121912654
rs121912654
0.020 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs762846821
rs762846821
0.020 GeneticVariation BEFREE Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation. 27863474

2016

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

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: 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: 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: rs563378859
rs563378859
0.030 GeneticVariation BEFREE To study the mutagenic mechanisms by which acute sunburn accelerates MM, we sequenced the exomes of spontaneous and neonatal UVB-induced Cdk4-R24C::Tyr-NRASQ61K mouse MMs. 26477315

2016

dbSNP: rs563378859
rs563378859
0.030 GeneticVariation BEFREE Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. 25189354

2015

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 The rs1042522 was also selected as a CM risk factor in multivariate models, suggesting an effect that is independent from and complementary to that of rs1805007. 31612033

2019

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Risk of cancer specific mortality, cardiovascular mortality, and respiratory mortality were not associated with Arg72Pro genotype overall; however, in exploratory subgroup analyses, genotype-associated risks of malignant melanoma and diabetes were altered. 28336930

2017

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE Risk of cancer specific mortality, cardiovascular mortality, and respiratory mortality were not associated with Arg72Pro genotype overall; however, in exploratory subgroup analyses, genotype-associated risks of malignant melanoma and diabetes were altered. 28336930

2017

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE Risk of cancer specific mortality, cardiovascular mortality, and respiratory mortality were not associated with Arg72Pro genotype overall; however, in exploratory subgroup analyses, genotype-associated risks of malignant melanoma and diabetes were altered. 28336930

2017

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE This meta-analysis suggests that genotypes for the TP53 rs1042522 G>C polymorphism might not be associated with the risk of melanoma. 26148609

2016

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Our meta-analysis based on all studies shows that the p53 Arg72Pro polymorphism may increase individual susceptibility to CM, particularly in Caucasians and could serve as a biomarker to predict the population at high risk of CM. 25774791

2015