• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=9354451).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=15009714; PubMed=15048078).
  

PubMed=9354451
Marina Castellano, Pamela M. Pollock, Marilyn K. Walters, Louise E. Sparrow, Louise M. Down, Brian G. Gabrielli, Peter G. Parsons, Nicholas K. Hayward;
CDKN2A/p16 is inactivated in most melanoma cell lines.
Cancer Res. 57:4868-4875(1997)

PubMed=15009714; DOI=10.1046/j.0022-202X.2004.22243.x; PMCID=PMC2586668
Hensin Tsao, Vikas Goel, Heng Wu, Guang Yang, Frank G. Haluska;
Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma.
J. Invest. Dermatol. 122:337-341(2004)

PubMed=15048078; DOI=10.1038/sj.onc.1207563
Sandra Pavey, Peter Johansson, Leisl Packer, Jennifer Taylor, Mitchell S. Stark, Pamela M. Pollock, Graeme J. Walker, Glen M. Boyle, Ursula Harper, Sarah-Jane Cozzi, Katherine Hansen ...Show all 20 authors... , Laura Yudt, Chris Schmidt, Peter Hersey, Kay Adrian Oswald Ellem, Michael G.E. O'Rourke, Peter G. Parsons, Paul S. Meltzer, Markus Ringner, Nicholas K. Hayward; Show fewer authors
Microarray expression profiling in melanoma reveals a BRAF mutation signature.
Oncogene 23:4060-4067(2004)

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