• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Heterozygous (PubMed=26909863).
  
• Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Heterozygous (PubMed=26909863).
  
• Gene fusion; HGNC; HGNC:7413; MTAP + HGNC; HGNC:34341; CDKN2B-AS1; Name(s)=MTAP-ANRIL (PubMed=26909863).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Leu597Arg (c.1790T>G); ClinVar=VCV000013968; Zygosity=Unspecified (PubMed=23348503).
  
• Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-124C>T (c.228C>T) (C228T); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
  

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)