• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=7747814; PubMed=18505964).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Unspecified (PubMed=21725359; PubMed=24576830).
  

PubMed=6933476; DOI=10.1073/pnas.77.7.4260; PMCID=PMC349812
Houghton A.N., Taormina M.C., Ikeda H., Watanabe T., Oettgen H.F., Old L.J.
Serological survey of normal humans for natural antibody to cell surface antigens of melanoma.
Proc. Natl. Acad. Sci. U.S.A. 77:4260-4264(1980)

PubMed=2983346; DOI=10.1073/pnas.82.5.1470; PMCID=PMC397284
Dracopoli N.C., Houghton A.N., Old L.J.
Loss of polymorphic restriction fragments in malignant melanoma: implications for tumor heterogeneity.
Proc. Natl. Acad. Sci. U.S.A. 82:1470-1474(1985)

PubMed=7747814; PMCID=PMC1869278
Gruis N.A., Weaver-Feldhaus J.M., Liu Q.-Y., Frye C., Eeles R., Orlow I., Lacombe L., Ponce-Castaneda V., Lianes P., Latres E., Skolnick M.H., Cordon-Cardo C., Kamb A.
Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression.
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PubMed=15299072; DOI=10.1158/1535-7163.895.3.8
Qin J.-Z., Stennett L., Bacon P., Bodner B., Hendrix M.J.C., Seftor R.E.B., Seftor E.A., Margaryan N.V., Pollock P.M., Curtis A., Trent J.M., Bennett F., Miele L., Nickoloff B.J.
p53-independent NOXA induction overcomes apoptotic resistance of malignant melanomas.
Mol. Cancer Ther. 3:895-902(2004)

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=21725359; DOI=10.1038/onc.2011.250; PMCID=PMC3267014
Xing F., Persaud Y., Pratilas C.A., Taylor B.S., Janakiraman M., She Q.-B., Gallardo H.F., Liu C., Merghoub T., Hefter B.E., Dolgalev I., Viale A.J., Heguy A., de Stanchina E., Cobrinik D., Bollag G., Wolchok J.D., Houghton A.N., Solit D.B.
Concurrent loss of the PTEN and RB1 tumor suppressors attenuates RAF dependence in melanomas harboring (V600E)BRAF.
Oncogene 31:446-457(2012)

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)