• Mutation; HGNC; 1097; BRAF; Simple; p.Val600Lys (c.1798_1799delGTinsAA); ClinVar=VCV000375941; Zygosity=Heterozygous (PubMed=17363583; PubMed=22383533; PubMed=23890154).
  
• Mutation; HGNC; 1787; CDKN2A; Simple; p.Pro114Leu (c.341C>T) (p.Ala128Ala, c.384C>T); ClinVar=VCV000077637; Zygosity=Unspecified (PubMed=17363583).
  
• Mutation; HGNC; 6840; MAP2K1; Simple; p.Pro124Leu (c.371C>T); ClinVar=VCV000040744; Zygosity=Heterozygous (PubMed=22383533).
  

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)

PubMed=23890154; DOI=10.1111/pcmr.12153
Dutton-Regester K., Kakavand H., Aoude L.G., Stark M.S., Gartside M.G., Johansson P., O'Connor L., Lanagan C., Tembe V., Pupo G.M., Haydu L.E., Schmidt C.W., Mann G.J., Thompson J.F., Scolyer R.A., Hayward N.K.
Melanomas of unknown primary have a mutation profile consistent with cutaneous sun-exposed melanoma.
Pigment Cell Melanoma Res. 26:852-860(2013)