• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=17260012).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=17260012; PubMed=23851445).
  

PubMed=9288767
Per Guldberg, Per thor Straten, Anette Birck, Vibeke Ahrenkiel, Alexei F. Kirkin, Jesper Zeuthen;
Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma.
Cancer Res. 57:3660-3663(1997)

PubMed=15592718; DOI=10.1007/s00262-004-0561-5; PMCID=PMC11032966
Teresa Rodriguez, Rosa Mendez, Chrissy H. Roberts, Francisco Ruiz-Cabello Osuna, I. Anthony Dodi, Miguel Angel Lopez-Nevot, Laura Paco, Isabel Maleno, Steven G.E. Marsh, Graham Pawelec, Federico Garrido;
High frequency of homozygosity of the HLA region in melanoma cell lines reveals a pattern compatible with extensive loss of heterozygosity.
Cancer Immunol. Immunother. 54:141-148(2005)

PubMed=17260012; DOI=10.1038/sj.onc.1210252
Goran Jonsson, Christina Dahl, Johan Staaf, Troy Sandberg, Par-Ola Bendahl, Markus Ringner, Per Guldberg, Ake Borg;
Genomic profiling of malignant melanoma using tiling-resolution arrayCGH.
Oncogene 26:4738-4748(2007)

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)