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
2014
Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma
Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, Schlessinger J, Rimm DL, Höög A, Prasad ML, Korah R, Larsson C, Lifton RP, Carling T. Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma. The Journal Of Clinical Endocrinology & Metabolism 2014, 100: e493-e502. PMID: 25490274, PMCID: PMC5393505, DOI: 10.1210/jc.2014-3282.Peer-Reviewed Original ResearchConceptsAdrenocortical carcinomaSomatic mutationsCopy number alterationsNumber alterationsNonsynonymous somatic mutationsWnt pathway dysregulationHomozygous deletionMajority of casesPotential disease-causing mutationsWhole-exome sequencingUnderlying somatic mutationsLethal malignancyPathway dysregulationTumorsExome sequencingFocal CNAsDisease-causing mutationsCarcinomaTERT locusZNRF3Recurrent CNAsAlterationsNormal samplesTP53Unknown roleDifferential TAM receptor–ligand–phospholipid interactions delimit differential TAM bioactivities
Lew ED, Oh J, Burrola PG, Lax I, Zagórska A, Través PG, Schlessinger J, Lemke G. Differential TAM receptor–ligand–phospholipid interactions delimit differential TAM bioactivities. ELife 2014, 3: e03385. PMID: 25265470, PMCID: PMC4206827, DOI: 10.7554/elife.03385.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAxl Receptor Tyrosine KinaseBone Marrow CellsCell LineC-Mer Tyrosine KinaseEmbryo, MammalianFemaleFibroblastsGene Expression RegulationHEK293 CellsHumansIntercellular Signaling Peptides and ProteinsMaleMiceMice, Inbred C57BLMice, KnockoutPhagocytosisPhosphatidylserinesPrimary Cell CultureProtein SProto-Oncogene ProteinsReceptor Protein-Tyrosine KinasesRecombinant ProteinsSignal TransductionConceptsActivation of MerWild-type affinityReceptor tyrosine kinasesCellular physiologyReceptor-ligand engagementTAM receptor tyrosine kinasesGenetic analysisLigand specificityTyrosine kinaseLigand engagementPhospholipid phosphatidylserineGla domainPhospholipid interactionsDifferential activityProtein SAxlGas6PhosphatidylserinePhagocytosisPredominant roleKinasePhysiologyRegulationActivationReceptors
2013
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma
Zhao S, Choi M, Overton JD, Bellone S, Roque DM, Cocco E, Guzzo F, English DP, Varughese J, Gasparrini S, Bortolomai I, Buza N, Hui P, Abu-Khalaf M, Ravaggi A, Bignotti E, Bandiera E, Romani C, Todeschini P, Tassi R, Zanotti L, Carrara L, Pecorelli S, Silasi DA, Ratner E, Azodi M, Schwartz PE, Rutherford TJ, Stiegler AL, Mane S, Boggon TJ, Schlessinger J, Lifton RP, Santin AD. Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 2916-2921. PMID: 23359684, PMCID: PMC3581983, DOI: 10.1073/pnas.1222577110.Peer-Reviewed Original ResearchConceptsNuRD chromatin-remodeling complexSomatic copy number variationsSomatic mutationsCell proliferation pathwaysCopy number mutationsDNA mismatch repairCopy number variationsCopy number lossChromatin remodelingTranscriptional machineryCopy number gainsChromosome segmentsFrequent mutationsChromosome 19Loss of TP53Cell cycleCancer genesWhole-exome sequencingBurden of mutationsMismatch repairProliferation pathwaysDNA damageMutational landscapeNormal DNAFrequent amplification