• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=17363583).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=15048078; PubMed=17363583).
  

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=9466661; DOI=10.1002/(SICI)1097-0215(19980209)75:4<590::AID-IJC16>3.0.CO;2-D
White C.A., Thomson S.A., Cooper L.T., van Endert P.M., Tampe R., Coupar B., Qiu L., Parsons P.G., Moss D.J., Khanna R.
Constitutive transduction of peptide transporter and HLA genes restores antigen processing function and cytotoxic T cell-mediated immune recognition of human melanoma cells.
Int. J. Cancer 75:590-595(1998)

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)