• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799_1800delTGinsAA); ClinVar=VCV000376069; Zygosity=Unspecified (PubMed=23851445).
  
• Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Pro38Ser (c.112C>T); ClinVar=VCV000127688; Zygosity=Unspecified (PubMed=9288767; 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=9688544; DOI=10.1016/S0014-5793(98)00603-6
Karine N. Dzhandzhugazyan, Alexei F. Kirkin, Per thor Straten, Jesper Zeuthen;
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
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=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)