• 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
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=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)