• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=9354451; PubMed=17363583).
  
• 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=17363583; PubMed=22383533).
  

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=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)

PubMed=22383533; DOI=10.1158/1535-7163.MCT-11-0676
Dutton-Regester K., Irwin D., Hunt P., Aoude L.G., Tembe V., Pupo G.M., Lanagan C., Carter C.D., O'Connor L., O'Rourke M., Scolyer R.A., Mann G.J., Schmidt C.W., Herington A., Hayward N.K.
A high-throughput panel for identifying clinically relevant mutation profiles in melanoma.
Mol. Cancer Ther. 11:888-897(2012)