Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p.E318K; diagnostic yield 4.0%). 30414346

2019

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE Our results demonstrate that MITF E318K reduces the program of senescence to potentially favor melanoma progression in vivo. 28376192

2017

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE In melanoma, an increased penetrance is found in cases when pigmentation gene risk alleles such as MC1R variants are coincident with mutation of higher-risk melanoma genes including CDKN2A, CDK4 and MITF E318K, demonstrating an interface between the pathways for pigmentation, naevogenesis and melanoma. 28463841

2017

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE In addition to melanoma risk, MITF p.E318K is associated with a high nevi count and could play a role in fast-growing melanomas. 26650189

2016

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE A case-control study on melanoma patients who coincidentally were affected by renal cell carcinoma (RCC) has revealed an elevated risk for mutation carriers to be affected by one or both of these malignancies, suggesting a possible role for MITF p.E318K in renal carcinogenesis. 26999813

2016

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE Recent studies reported an increased risk of melanoma in individuals carrying the rare variant MITF, p.E318K (rs149617956). 27680874

2016

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE The MITF p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls. 25803691

2015

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE Our study demonstrates a lack of strong association of E3</span>18K and V320I with increased risk of melanoma or cancers of the kidney, breast, prostate, lung, or colon. 24767713

2014

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). 24406078

2014

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. 23774529

2014

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE A French and an Australian study have recently identified a rare germline functional variant in the microphthalmia-associated transcription factor (MITF) (E318K) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer. 23167872

2013

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE We identify one individual carrying a novel germline variant (coding DNA sequence c.G1075A; protein sequence p.E318K; rs149617956) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF). 22080950

2011

dbSNP: rs149617956
rs149617956
0.100 GeneticVariation BEFREE Here we identify a germline missense substitution in MITF (Mi-E318K) that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls. 22012259

2011

dbSNP: rs1176796243
rs1176796243
0.010 GeneticVariation BEFREE We identified a new human MC1R variant (D117G) and reported MC1R variant distributions in Hungarian MMs for the first time. 24660985

2014

dbSNP: rs757354709
rs757354709
0.010 GeneticVariation BEFREE Our study demonstrates a lack of strong association of E318K and V320I with increased risk of melanoma or cancers of the kidney, breast, prostate, lung, or colon. 24767713

2014

dbSNP: rs1425262191
rs1425262191
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: rs781298935
rs781298935
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: rs763904674
rs763904674
0.010 GeneticVariation BEFREE To directly assess ATF2's role in me</span>lanoma development, we crossed a mouse melanoma model (Nras(Q61K)::Ink4a⁻/⁻) with mice expressing a transcriptionally inactive form of ATF2 in melanocytes. 21203491

2010

dbSNP: rs201351378
rs201351378
0.010 GeneticVariation BEFREE We found that the variant allele of OCA2 R419Q (rs1800407) was associated with increased risk of MM (OR 1.55, 95% CI 1.04-2.31, P = 0.03). 19320733

2009