• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=17311103; PubMed=23348503; PubMed=23851445).
  
• Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Arg80Ter (c.237_238CC>TT) (c.237_238delinsTT) (p.Pro94Leu, c.280_281CC>TT); Zygosity=Unspecified (PubMed=23851445).
  
• Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
  

PubMed=7646526; DOI=10.1006/bbrc.1995.2187
Metin Artuc, Wolf Nurnberg, Beate M. Czarnetzki, Dirk Schadendorf;
Characterization of gene regulatory elements for selective gene expression in human melanoma cells.
Biochem. Biophys. Res. Commun. 213:699-705(1995)

PubMed=8688321; DOI=10.1038/bjc.1996.337; PMCID=PMC2074587
Dirk Schadendorf, Iduna Fichtner, Amira Makki, Selma Alijagic, Marion Kupper, Ulrich Mrowietz, Beate M. Henz;
Metastatic potential of human melanoma cells in nude mice -- characterisation of phenotype, cytokine secretion and tumour-associated antigens.
Br. J. Cancer 74:194-199(1996)

PubMed=15592718; DOI=10.1007/s00262-004-0561-5; PMCID=PMC11032966
Teresa Rodriguez, Rosa Mendez, Chrissy H. Roberts, Francisco Ruiz-Cabello Osuna, I. Anthony Dodi, Miguel Angel Lopez-Nevot, Laura Paco, Isabel Maleno, Steven G.E. Marsh, Graham Pawelec, Federico Garrido;
High frequency of homozygosity of the HLA region in melanoma cell lines reveals a pattern compatible with extensive loss of heterozygosity.
Cancer Immunol. Immunother. 54:141-148(2005)

PubMed=17311103; DOI=10.1371/journal.pone.0000236; PMCID=PMC1794595
Selma Ugurel, Ranjit K. Thirumaran, Sandra Bloethner, Andreas Gast, Antje Sucker, Jan Mueller-Berghaus, Werner Rittgen, Kari Hemminki, Jurgen C. Becker, Rajiv Kumar, Dirk Schadendorf;
B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.
PLoS ONE 2:e236.1-e236.13(2007)

PubMed=19340423; DOI=10.1007/s00262-009-0701-z; PMCID=PMC11030131
Rosa Mendez, Natalia Aptsiauri, Ana Del Campo, Isabel Maleno, Teresa Cabrera, Francisco Ruiz-Cabello Osuna, Federico Garrido, Angel Garcia-Lora;
HLA and melanoma: multiple alterations in HLA class I and II expression in human melanoma cell lines from ESTDAB cell bank.
Cancer Immunol. Immunother. 58:1507-1515(2009)

PubMed=23348503; DOI=10.1126/science.1230062
Susanne Horn, Adina Figl, P. Sivaramakrishna Rachakonda, Christine Fischer, Antje Sucker, Andreas Gast, Stephanie Kadel, Iris Moll, Eduardo Nagore, Kari Hemminki, Dirk Schadendorf, Rajiv Kumar;
TERT promoter mutations in familial and sporadic melanoma.
Science 339:959-961(2013)

PubMed=23851445; DOI=10.1158/1541-7786.MCR-13-0006
Christina Dahl, Claus Christensen, Goran Jonsson, Anders Lorentzen, Mette Louise Skjodt, Ake Borg, Graham Pawelec, Per Guldberg;
Mutual exclusivity analysis of genetic and epigenetic drivers in melanoma identifies a link between p14 ARF and RARbeta signaling.
Mol. Cancer Res. 11:1166-1178(2013)