• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Heterozygous (PubMed=20544847).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=23348503).
  
• Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Leu108Pro (c.323T>C); ClinVar=VCV000418436; Zygosity=Unspecified (PubMed=20544847).
  
• Mutation; HGNC; HGNC:11730; TERT; Simple; c.242_243CC>TT (-138/-139CC>TT); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
  

PubMed=20544847; DOI=10.1002/gcc.20785
Andreas Gast, Dominique Scherer, Bo-Wang Chen, Sandra Bloethner, Stephanie Melchert, Antje Sucker, Kari Hemminki, Dirk Schadendorf, Rajiv Kumar;
Somatic alterations in the melanoma genome: a high-resolution array-based comparative genomic hybridization study.
Genes Chromosomes Cancer 49:733-745(2010)

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)