• 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
Castellano M., Pollock P.M., Walters M.K., Sparrow L.E., Down L.M., Gabrielli B.G., Parsons P.G., Hayward N.K.
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
Tsao H., Goel V., Wu H., Yang G., Haluska F.G.
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
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=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)