2016
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, Genomics Y, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA. GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. American Journal Of Human Genetics 2016, 99: 443-450. PMID: 27476652, PMCID: PMC4974082, DOI: 10.1016/j.ajhg.2016.06.010.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedChild, PreschoolEnzyme ActivationGTP-Binding Protein alpha SubunitsGTP-Binding Protein alpha Subunits, Gq-G11Human Umbilical Vein Endothelial CellsHumansInfantInfant, NewbornIntercellular Signaling Peptides and ProteinsMaleMAP Kinase Signaling SystemMelanocytesMitogen-Activated Protein KinasesMutationProto-Oncogene Proteins c-aktVascular NeoplasmsConceptsLobular capillary hemangiomaVascular tumorsKaposiform hemangioendotheliomaMonths of lifeYears of ageSomatic activating mutationsGNA14 mutationsHuman endothelial cellsPharmacologic interventionsSignificant complicationsCommon neoplasmCapillary hemangiomaInfantile hemangiomasLCH lesionsPrimary human endothelial cellsTherapeutic interventionsActivating mutationsGNA11 mutationsTumorsEndothelial cellsLesionsPotential targetHemangiomaGNA14Somatic mutations
2012
Preexisting MEK1 Exon 3 Mutations in V600E/KBRAF Melanomas Do Not Confer Resistance to BRAF Inhibitors
Shi H, Moriceau G, Kong X, Koya RC, Nazarian R, Pupo GM, Bacchiocchi A, Dahlman KB, Chmielowski B, Sosman JA, Halaban R, Kefford RF, Long GV, Ribas A, Lo RS. Preexisting MEK1 Exon 3 Mutations in V600E/KBRAF Melanomas Do Not Confer Resistance to BRAF Inhibitors. Cancer Discovery 2012, 2: 414-424. PMID: 22588879, PMCID: PMC3594852, DOI: 10.1158/2159-8290.cd-12-0022.Peer-Reviewed Original ResearchConceptsBRAF inhibitorsActivating mutationsObjective tumor responseMEK1/2 inhibitorMEK1 mutationsP-ERK1/2 levelsBRAF-mutant melanomaMelanoma cell linesAdvanced melanomaAntitumor responseExon 3 mutationsTumor responseDisease progressionMelanomaBRAFi resistanceDrug sensitivitySignificant alterationsPatientsCell linesInhibitorsBaselineMutationsExon 3Widespread use