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

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.
Cancer Res. 56:5475-5483(1996)

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=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)