• Gene deletion; HGNC; 1787; CDKN2A; Zygosity=Homozygous (PubMed=17260012).
  
• Mutation; HGNC; 1097; BRAF; Simple; p.Val600Lys (c.1798_1799delGTinsAA); ClinVar=VCV000375941; Zygosity=Unspecified (PubMed=17260012; PubMed=23851445).
  
• Mutation; HGNC; 9588; PTEN; Simple; p.Gly127Glu (c.380G>A); ClinVar=VCV000428225; Zygosity=Unspecified (PubMed=9288767; PubMed=17260012; PubMed=23851445).
  

PubMed=9288767
Guldberg P., thor Straten P., Birck A., Ahrenkiel V., Kirkin A.F., Zeuthen J.
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
Rodriguez T., Mendez R., Roberts C.H., Ruiz-Cabello Osuna F., Dodi I.A., Lopez-Nevot M.A., Paco L., Maleno I., Marsh S.G.E., Pawelec G., Garrido F.
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
Jonsson G., Dahl C., Staaf J., Sandberg T., Bendahl P.-O., Ringner M., Guldberg P., Borg A.
Genomic profiling of malignant melanoma using tiling-resolution arrayCGH.
Oncogene 26:4738-4748(2007)

PubMed=23851445; DOI=10.1158/1541-7786.MCR-13-0006
Dahl C., Christensen C., Jonsson G., Lorentzen A., Skjodt M.L., Borg A., Pawelec G., Guldberg P.
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)