• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=26909863).
  
• Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Homozygous (PubMed=26909863).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=16827748; PubMed=23348503; PubMed=23851445).
  
• Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Leu247Ter (c.740T>G); ClinVar=VCV000428210; Zygosity=Unspecified (PubMed=23851445).
  

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=19340423; DOI=10.1007/s00262-009-0701-z; PMCID=PMC11030131
Rosa Mendez, Natalia Aptsiauri, Ana Del Campo, Isabel Maleno, Teresa Cabrera, Francisco Ruiz-Cabello Osuna, Federico Garrido, Angel Garcia-Lora;
HLA and melanoma: multiple alterations in HLA class I and II expression in human melanoma cell lines from ESTDAB cell bank.
Cancer Immunol. Immunother. 58:1507-1515(2009)

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=23851445; DOI=10.1158/1541-7786.MCR-13-0006
Christina Dahl, Claus Christensen, Goran Jonsson, Anders Lorentzen, Mette Louise Skjodt, Ake Borg, Graham Pawelec, Per Guldberg;
Mutual exclusivity analysis of genetic and epigenetic drivers in melanoma identifies a link between p14 ARF and RARbeta signaling.
Mol. Cancer Res. 11:1166-1178(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)