• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=21156289).
  
• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Heterozygous (PubMed=21156289).
  

PubMed=21156289; DOI=10.1016/j.ccr.2010.11.023; PMCID=PMC3026446
Villanueva J., Vultur A., Lee J.T., Somasundaram R., Fukunaga-Kalabis M., Cipolla A.K., Wubbenhorst B., Xu X.-W., Gimotty P.A., Kee D., Santiago-Walker A.E., Letrero R., D'Andrea K., Pushparajan A., Hayden J.E., Dahlman K.B., Laquerre S.G., McArthur G.A., Sosman J.A., Nathanson K.L., Herlyn M.
Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K.
Cancer Cell 18:683-695(2010)

PubMed=23285177; DOI=10.1371/journal.pone.0052760; PMCID=PMC3532357
Schayowitz A.B., Bertenshaw G.P., Jeffries E., Schatz T., Cotton J., Villanueva J., Herlyn M., Krepler C., Vultur A., Xu W., Yu G.H., Schuchter L.M., Clark D.P.
Functional profiling of live melanoma samples using a novel automated platform.
PLoS ONE 7:E52760-E52760(2012)

PubMed=24055054; DOI=10.1016/j.celrep.2013.08.023; PMCID=PMC3956616
Villanueva J., Infante J.R., Krepler C., Reyes-Uribe P., Samanta M., Chen H.-Y., Li B., Swoboda R.K., Wilson M., Vultur A., Fukunaga-Kalabis M., Wubbenhorst B., Chen T.Y., Liu Q., Sproesser K., DeMarini D.J., Gilmer T.M., Martin A.-M., Marmorstein R., Schultz D.C., Speicher D.W., Karakousis G.C., Xu W., Amaravadi R.K., Xu X.-W., Schuchter L.M., Herlyn M., Nathanson K.L.
Concurrent MEK2 mutation and BRAF amplification confer resistance to BRAF and MEK inhibitors in melanoma.
Cell Rep. 4:1090-1099(2013)