• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=26909863).
  
• Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Homozygous (PubMed=26909863).
  
• Mutation; HGNC; HGNC:7989; NRAS; Simple; p.Gln61His (c.183A>T); ClinVar=VCV000373003; Zygosity=Unspecified (PubMed=23348503).
  
• Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); 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)

PubMed=26909863; DOI=10.18632/oncotarget.7503; PMCID=PMC4941330
Hua-Ping Xie, P. Sivaramakrishna Rachakonda, Barbara Heidenreich, Eduardo Nagore, Antje Sucker, Kari Hemminki, Dirk Schadendorf, Rajiv Kumar;
Mapping of deletion breakpoints at the CDKN2A locus in melanoma: detection of MTAP-ANRIL fusion transcripts.
Oncotarget 7:16490-16504(2016)