2021
Integrated mutational landscape analysis of uterine leiomyosarcomas
Choi J, Manzano A, Dong W, Bellone S, Bonazzoli E, Zammataro L, Yao X, Deshpande A, Zaidi S, Guglielmi A, Gnutti B, Nagarkatti N, Tymon-Rosario JR, Harold J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Jeong K, Zhao S, Buza N, Hui P, Ravaggi A, Bignotti E, Romani C, Todeschini P, Zanotti L, Odicino F, Pecorelli S, Ardighieri L, Bilguvar K, Quick CM, Silasi DA, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Imielinski M, Schwartz PE, Alexandrov LB, Lifton RP, Schlessinger J, Santin AD. Integrated mutational landscape analysis of uterine leiomyosarcomas. Proceedings Of The National Academy Of Sciences Of The United States Of America 2021, 118: e2025182118. PMID: 33876771, PMCID: PMC8053980, DOI: 10.1073/pnas.2025182118.Peer-Reviewed Original ResearchConceptsHomologous recombination DNA repair deficiencySequencing dataWhole-genome sequencing dataRNA sequencing dataTCGA samplesCopy number variation analysisATRX/DAXXCopy number lossNumber variation analysisDNA repair deficiencyWhole-exome sequencing dataRecurrent somatic mutationsCopy number gainsCancer Genome AtlasPatient-derived xenograftsTumor suppressorAkt geneGenetic landscapeHRD signaturesPTEN geneGenesMost fusionsC-MycMutational signaturesC-myc/
2013
Oncogenic PIK3CA gene mutations and HER2/neu gene amplifications determine the sensitivity of uterine serous carcinoma cell lines to GDC-0980, a selective inhibitor of Class I PI3 kinase and mTOR kinase (TORC1/2)
English DP, Bellone S, Cocco E, Bortolomai I, Pecorelli S, Lopez S, Silasi DA, Schwartz PE, Rutherford T, Santin AD. Oncogenic PIK3CA gene mutations and HER2/neu gene amplifications determine the sensitivity of uterine serous carcinoma cell lines to GDC-0980, a selective inhibitor of Class I PI3 kinase and mTOR kinase (TORC1/2). American Journal Of Obstetrics And Gynecology 2013, 209: 465.e1-465.e9. PMID: 23891627, DOI: 10.1016/j.ajog.2013.07.020.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAntineoplastic AgentsBridged Bicyclo Compounds, HeterocyclicCarcinoma, PapillaryCell Line, TumorClass I Phosphatidylinositol 3-KinasesDrug Resistance, NeoplasmEndometrial NeoplasmsFemaleGene AmplificationGenes, erbB-2HumansIn Situ Hybridization, FluorescenceMiddle AgedMutationPhosphatidylinositol 3-KinasesPyrimidinesTOR Serine-Threonine KinasesConceptsClass I PI3-kinasePI3-kinaseC-erbB2 gene amplificationOncogenic PIK3CA mutationsMTOR kinaseCell linesGene amplificationUterine serous carcinoma cell linesDownstream cellular responsesCarcinoma cell linesUSC cell linesGene mutationsCellular responsesKinaseDifferential growth inhibitionDNA sequencingDirect DNA sequencingMutationsSitu hybridizationUse of GDCGrowth inhibitionExon 9HER2/neu gene amplificationFishPrimary USC cell lines