• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=18505964).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=24576830).
  

PubMed=18505964; DOI=10.1093/jnci/djn157; PMCID=PMC4410798
Freedberg D.E., Rigas S.H., Russak J.E., Gai W.-M., Kaplow M.E., Osman I., Turner F., Randerson-Moor J.A., Houghton A.N., Busam K.J., Bishop D.T., Bastian B.C., Newton-Bishop J.A., Polsky D.
Frequent p16-independent inactivation of p14ARF in human melanoma.
J. Natl. Cancer Inst. 100:784-795(2008)

PubMed=21343389; DOI=10.1158/0008-5472.CAN-10-2958; PMCID=PMC3070783
Rose A.E., Poliseno L., Wang J.-H., Clark M., Pearlman A., Wang G.-M., Vega y Saenz de Miera E.C., Medicherla R., Christos P.J., Shapiro R., Pavlick A., Darvishian F., Zavadil J., Polsky D., Hernando E., Ostrer H., Osman I.
Integrative genomics identifies molecular alterations that challenge the linear model of melanoma progression.
Cancer Res. 71:2561-2571(2011)

PubMed=24576830; DOI=10.1158/0008-5472.CAN-13-2625; PMCID=PMC4005042
Nissan M.H., Pratilas C.A., Jones A.M., Ramirez R., Won H., Liu C.-L., Tiwari S., Kong L., Hanrahan A.J., Yao Z., Merghoub T., Ribas A., Chapman P.B., Yaeger R.D., Taylor B.S., Schultz N., Berger M.F., Rosen N., Solit D.B.
Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence.
Cancer Res. 74:2340-2350(2014)