• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=17260012).
  
• Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Leu139Ter (c.416T>G); ClinVar=VCV000427590; Zygosity=Unspecified (PubMed=9288767; PubMed=17260012).
  

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=17260012; DOI=10.1038/sj.onc.1210252
Goran Jonsson, Christina Dahl, Johan Staaf, Troy Sandberg, Par-Ola Bendahl, Markus Ringner, Per Guldberg, Ake Borg;
Genomic profiling of malignant melanoma using tiling-resolution arrayCGH.
Oncogene 26:4738-4748(2007)