• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=26909863).
  
• Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Homozygous (PubMed=26909863).
  
• Gene deletion; HGNC; HGNC:9588; PTEN; Zygosity=Heterozygous (PubMed=20544847).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=16827748; PubMed=17311103; PubMed=23348503).
  
• Mutation; HGNC; HGNC:11730; TERT; Simple; c.1-146C>T (c.250C>T) (C250T); Zygosity=Unspecified; Note=In promoter (PubMed=23348503).
  

PubMed=16827748; DOI=10.1111/j.1600-0749.2006.00322.x
Keith S. Hoek, Natalie C. Schlegel, Patricia Brafford, Antje Sucker, Selma Ugurel, Rajiv Kumar, Barbara L. Weber, Katherine L. Nathanson, Donald J. Phillips, Meenhard Herlyn, Dirk Schadendorf, Reinhard Dummer;
Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature.
Pigment Cell Res. 19:290-302(2006)

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=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)