2024
Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix
Bellone S, Jeong K, Halle M, Krakstad C, McNamara B, Greenman M, Mutlu L, Demirkiran C, Hartwich T, Yang-Hartwich Y, Zipponi M, Buza N, Hui P, Raspagliesi F, Lopez S, Paolini B, Milione M, Perrone E, Scambia G, Altwerger G, Ravaggi A, Bignotti E, Huang G, Andikyan V, Clark M, Ratner E, Azodi M, Schwartz P, Quick C, Angioli R, Terranova C, Zaidi S, Nandi S, Alexandrov L, Siegel E, Choi J, Schlessinger J, Santin A. Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2321898121. PMID: 38625939, PMCID: PMC11046577, DOI: 10.1073/pnas.2321898121.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingPatient-derived-xenograftsBase excision repairCopy number lossMultiregion whole-exome sequencingCopy number gainHigh-grade neuroendocrine carcinomaCNV analysisPhylogenetic analysisEvolutionary historyNeuroendocrine cervical cancerHuman papillomavirus DNAMutator phenotypeSensitivity to afatinibGenetic landscapeRecurrent mutationsRNA sequencingGene fusionsMutational landscape analysisExcision repairGenesMutationsPan-HERConsistent with deficiencyNeuroendocrine carcinoma
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/
2016
Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition
Zhao S, Bellone S, Lopez S, Thakral D, Schwab C, English DP, Black J, Cocco E, Choi J, Zammataro L, Predolini F, Bonazzoli E, Bi M, Buza N, Hui P, Wong S, Abu-Khalaf M, Ravaggi A, Bignotti E, Bandiera E, Romani C, Todeschini P, Tassi R, Zanotti L, Odicino F, Pecorelli S, Donzelli C, Ardighieri L, Facchetti F, Falchetti M, Silasi DA, Ratner E, Azodi M, Schwartz PE, Mane S, Angioli R, Terranova C, Quick CM, Edraki B, Bilgüvar K, Lee M, Choi M, Stiegler AL, Boggon TJ, Schlessinger J, Lifton RP, Santin AD. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: 12238-12243. PMID: 27791010, PMCID: PMC5087050, DOI: 10.1073/pnas.1614120113.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCarcinosarcomaClass I Phosphatidylinositol 3-KinasesDNA-Binding ProteinsEpithelial-Mesenchymal TransitionFemaleGene Expression Regulation, NeoplasticHistonesHumansMiddle AgedMutationOvarian NeoplasmsPTEN PhosphohydrolaseTelomeraseTumor Suppressor Protein p53Uterine NeoplasmsConceptsEpithelial-mesenchymal transitionWhole-exome sequencingHistone gene clusterMutational landscapeStable transgenic expressionExcess of mutationsMultiregion whole-exome sequencingHistone genesEvolutionary historyPhylogenetic relationshipsGene clusterHistone H2AChromosome segmentsSeparate lineagesCancer genesGenetic landscapeUterine serous carcinoma cell linesTransgenic expressionGenesCarcinoma cell linesGene TP53Frequent amplificationFrequent deletionsChromosome 6pInvasive properties
2015
HER2 as Biomarker for Endometrial Cancer
English D, Roque D, Buza N, Santin A. HER2 as Biomarker for Endometrial Cancer. Biomarkers In Disease: Methods, Discoveries And Applications 2015, 507-526. DOI: 10.1007/978-94-007-7681-4_26.ChaptersEndometrial cancerEpidermal growth factor (EGF) familyGrowth factor familyC-erbB2 geneFactor familyCell survivalErbB pathwayNovel tyrosine kinase inhibitorOverall poor survivalOverexpression of HER2Tyrosine kinase inhibitorsKinase inhibitorsEndometrial neoplasmsPoor survivalPathwayTumor typesHER2Monoclonal antibodiesCancerGenesBiomarkersOverexpressionSurvivalWide varietyErbB2
2014
HER2 as Biomarker for Endometrial Cancer
English D, Roque D, Buza N, Santin A. HER2 as Biomarker for Endometrial Cancer. 2014, 1-16. DOI: 10.1007/978-94-007-7744-6_26-1.ChaptersEndometrial cancerEpidermal growth factor (EGF) familyGrowth factor familyC-erbB2 geneFactor familyCell survivalErbB pathwayNovel tyrosine kinase inhibitorOverall poor survivalOverexpression of HER2Tyrosine kinase inhibitorsKinase inhibitorsEndometrial neoplasmsPoor survivalPathwayTumor typesHER2Monoclonal antibodiesCancerGenesBiomarkersOverexpressionSurvivalWide varietyErbB2
2007
Gene expression profile of ovarian serous papillary carcinomas: identification of metastasis-associated genes
Bignotti E, Tassi RA, Calza S, Ravaggi A, Bandiera E, Rossi E, Donzelli C, Pasinetti B, Pecorelli S, Santin AD. Gene expression profile of ovarian serous papillary carcinomas: identification of metastasis-associated genes. American Journal Of Obstetrics And Gynecology 2007, 196: 245.e1-245.e11. PMID: 17346539, DOI: 10.1016/j.ajog.2006.10.874.Peer-Reviewed Original ResearchConceptsMetastasis-associated genesGene expressionOverexpression of CXCL12Gene expression profilesGene expression profilingMetastatic ovarian cancerNumber of invasionsHepsin geneHuman genesExpression profilingExpression profilesOligonucleotide microarraysQuantitative real-time polymerase chain reactionOvarian cancerGenesProbe setsPrimary ovarian serous carcinomaOvarian serous papillary carcinomaSerous papillary ovarian carcinomasProtein levelsSerous papillary carcinomaReal-time polymerase chain reactionOvarian serous carcinomaOspCPredictive genes
2006
Differential gene expression profiles between tumor biopsies and short-term primary cultures of ovarian serous carcinomas: Identification of novel molecular biomarkers for early diagnosis and therapy
Bignotti E, Tassi RA, Calza S, Ravaggi A, Romani C, Rossi E, Falchetti M, Odicino FE, Pecorelli S, Santin AD. Differential gene expression profiles between tumor biopsies and short-term primary cultures of ovarian serous carcinomas: Identification of novel molecular biomarkers for early diagnosis and therapy. Gynecologic Oncology 2006, 103: 405-416. PMID: 16725184, DOI: 10.1016/j.ygyno.2006.03.056.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorBiopsyClaudin-3Claudin-4Cystadenocarcinoma, SerousEpithelial CellsFemaleGene Expression ProfilingHumansImmunohistochemistryKallikreinsMammaglobin AMembrane ProteinsMiddle AgedNeoplasm ProteinsOvarian NeoplasmsReverse Transcriptase Polymerase Chain ReactionTumor Cells, CulturedUteroglobinConceptsGene expression profilesGene expression profilingExpression profilingExpression profilesGenetic fingerprintsDifferential gene expression profilesNovel molecular biomarkersGene expression productsOvarian serous papillary carcinomaGene expression dataHuman genesGene expressionMolecular biomarkersOligonucleotide microarraysExpression productsPrimary tumor cell culturesExpression dataQuantitative RT-PCREnterotoxin receptorGenesMicroarray dataKallikrein 6Ovarian serous carcinomaProtein levelsMammaglobin 2
2004
Gene expression profiles in primary ovarian serous papillary tumors and normal ovarian epithelium: Identification of candidate molecular markers for ovarian cancer diagnosis and therapy
Santin AD, Zhan F, Bellone S, Palmieri M, Cane S, Bignotti E, Anfossi S, Gokden M, Dunn D, Roman JJ, O'Brien TJ, Tian E, Cannon MJ, Shaughnessy J, Pecorelli S. Gene expression profiles in primary ovarian serous papillary tumors and normal ovarian epithelium: Identification of candidate molecular markers for ovarian cancer diagnosis and therapy. International Journal Of Cancer 2004, 112: 14-25. PMID: 15305371, DOI: 10.1002/ijc.20408.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkers, TumorCarcinoma, PapillaryCells, CulturedCystadenocarcinoma, SerousEpitheliumFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansMiddle AgedOligonucleotide Array Sequence AnalysisOvarian NeoplasmsOvaryReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSerine EndopeptidasesConceptsGene expression profilesExpression profilesOvarian serous papillary carcinomaExpression dataDifferential expressionTumor-associated calcium signal transducer 1Cell linesGrowth factor beta receptor IIINormal ovarian epitheliumPlatelet-derived growth factor receptor alphaGene expression dataGrowth factor receptor alphaCandidate molecular markersOvarian epitheliumGene expressionLadinin-1Oligonucleotide microarraysMolecular markersQuantitative RT-PCRGenesClaudin-3Probe setsOvarian cancerClaudin-4Important molecular featuresDiscrimination between uterine serous papillary carcinomas and ovarian serous papillary tumours by gene expression profiling
Santin AD, Zhan F, Bellone S, Palmieri M, Cane S, Gokden M, Roman JJ, O'Brien TJ, Tian E, Cannon MJ, Shaughnessy J, Pecorelli S. Discrimination between uterine serous papillary carcinomas and ovarian serous papillary tumours by gene expression profiling. British Journal Of Cancer 2004, 90: 1814-1824. PMID: 15208622, PMCID: PMC2409747, DOI: 10.1038/sj.bjc.6601791.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCarcinoma, PapillaryCells, CulturedCystadenocarcinoma, SerousDiagnosis, DifferentialFemaleFlow CytometryGene Expression ProfilingGene Expression Regulation, NeoplasticHumansImmunohistochemistryMiddle AgedOligonucleotide Array Sequence AnalysisOvarian NeoplasmsReceptor, ErbB-2Reverse Transcriptase Polymerase Chain ReactionUterine NeoplasmsConceptsUterine serous papillary carcinomaGene expressionOverexpressed genesSerous papillary carcinomaGene expression fingerprintGene expression profilingHuman genesC-erbB2 geneExpression fingerprintsMolecular basisExpression profilingPapillary carcinomaOligonucleotide microarraysExpression productsQuantitative RT-PCRGenesClinical tissue samplesProbe setsTwo-fold differenceMore effective treatment modalitiesEffective treatment modalitySerous papillary tumorsPlasminogen activator inhibitorDifferent biological behaviorDevelopment of novel
2001
The CA 125 Gene: An Extracellular Superstructure Dominated by Repeat Sequences
O’Brien T, Beard J, Underwood L, Dennis R, Santin A, York L. The CA 125 Gene: An Extracellular Superstructure Dominated by Repeat Sequences. Tumor Biology 2001, 22: 348-366. PMID: 11786729, DOI: 10.1159/000050638.Peer-Reviewed Original ResearchConceptsThreonine-rich sequenceAmino acid repeat unitsShort cytoplasmic tailAmino-terminal domainRepeat unitsTransmembrane domainCytoplasmic tailRepeat domainTerminal domainO-glycosylationBiological functionsRepeat sequencesCytoplasmic phosphorylationEpitope binding sitesExtracellular domainExtracellular structuresCysteine loopProtein coreTransmembrane glycoproteinLarge transmembrane glycoproteinProteolytic cleavageGenesBinding sitesPhysiologic roleSequence