• Gene deletion; HGNC; HGNC:9588; PTEN; Zygosity=Homozygous (PubMed=17363583).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Heterozygous (PubMed=15048078; PubMed=17363583).
  
• Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.Pro114Leu (c.341C>T) (p.Ala128Ala, c.384C>T); ClinVar=VCV000077637; Zygosity=Unspecified (PubMed=17363583).
  

PubMed=15048078; DOI=10.1038/sj.onc.1207563
Pavey S., Johansson P., Packer L., Taylor J., Stark M.S., Pollock P.M., Walker G.J., Boyle G.M., Harper U., Cozzi S.-J., Hansen K., Yudt L., Schmidt C., Hersey P., Ellem K.A.O., O'Rourke M.G.E., Parsons P.G., Meltzer P.S., Ringner M., Hayward N.K.
Microarray expression profiling in melanoma reveals a BRAF mutation signature.
Oncogene 23:4060-4067(2004)

PubMed=17363583; DOI=10.1158/0008-5472.CAN-06-4152
Stark M.S., Hayward N.K.
Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays.
Cancer Res. 67:2632-2642(2007)

PubMed=17516929; DOI=10.1111/j.1600-0749.2007.00375.x
Johansson P., Pavey S., Hayward N.K.
Confirmation of a BRAF mutation-associated gene expression signature in melanoma.
Pigment Cell Res. 20:216-221(2007)