• 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).
  
• Mutation; HGNC; HGNC:9588; PTEN; Simple; c.165-18T>A; Zygosity=Unspecified (PubMed=9288767; PubMed=23851445).
  

PubMed=7656272; DOI=10.1007/BF01527402; PMCID=PMC11037630
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PubMed=8665567; DOI=10.1007/s002620050272; PMCID=PMC11037612
Kirkin A.F., thor Straten P., Zeuthen J.
Differential modulation by interferon gamma of the sensitivity of human melanoma cells to cytolytic T cell clones that recognize differentiation or progression antigens.
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PubMed=8968104
Bartkova J., Lukas J., Guldberg P., Alsner J., Kirkin A.F., Zeuthen J., Bartek J.
The p16-cyclin D/Cdk4-pRb pathway as a functional unit frequently altered in melanoma pathogenesis.
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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=9688544; DOI=10.1016/S0014-5793(98)00603-6
Dzhandzhugazyan K.N., Kirkin A.F., thor Straten P., Zeuthen J.
Ecto-ATP diphosphohydrolase/CD39 is overexpressed in differentiated human melanomas.
FEBS Lett. 430:227-230(1998)

PubMed=15592718; DOI=10.1007/s00262-004-0561-5; PMCID=PMC11032966
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)