• 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
Gast A., Scherer D., Chen B.-W., Bloethner S., Melchert S., Sucker A., Hemminki K., Schadendorf D., Kumar R.
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
Horn S., Figl A., Rachakonda P.S., Fischer C., Sucker A., Gast A., Kadel S., Moll I., Nagore E., Hemminki K., Schadendorf D., Kumar R.
TERT promoter mutations in familial and sporadic melanoma.
Science 339:959-961(2013)

PubMed=26909863; DOI=10.18632/oncotarget.7503; PMCID=PMC4941330
Xie H.-P., Rachakonda P.S., Heidenreich B., Nagore E., Sucker A., Hemminki K., Schadendorf D., Kumar R.
Mapping of deletion breakpoints at the CDKN2A locus in melanoma: detection of MTAP-ANRIL fusion transcripts.
Oncotarget 7:16490-16504(2016)