• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=23851445).
  
• Gene deletion; HGNC; HGNC:9588; PTEN; Zygosity=Homozygous (PubMed=9288767; PubMed=23851445).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=23851445).
  

PubMed=8968104
Jirina Bartkova, Jiri Lukas, Per Guldberg, Jan Alsner, Alexei F. Kirkin, Jesper Zeuthen, Jiri Bartek;
The p16-cyclin D/Cdk4-pRb pathway as a functional unit frequently altered in melanoma pathogenesis.
Cancer Res. 56:5475-5483(1996)

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=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=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)