000265365 001__ 265365
000265365 005__ 20231120155359.0
000265365 0247_ $$2pmid$$apmid:37783677
000265365 0247_ $$2doi$$a10.1038/s41420-023-01650-4
000265365 0247_ $$2pmc$$apmc:PMC10545677
000265365 0247_ $$2altmetric$$aaltmetric:155311198
000265365 037__ $$aDZNE-2023-00989
000265365 082__ $$a610
000265365 1001_ $$aYang, Xue$$b0
000265365 245__ $$aA primary luminal/HER2 negative breast cancer patient with mismatch repair deficiency
000265365 260__ $$aLondon$$bNature Publishing Group$$c2023
000265365 3367_ $$2DRIVER$$aarticle
000265365 3367_ $$2DataCite$$aOutput Types/Journal article
000265365 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1697198295_22039
000265365 3367_ $$2BibTeX$$aARTICLE
000265365 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000265365 3367_ $$00$$2EndNote$$aJournal Article
000265365 520__ $$aHere, we present the case of a 47-year-old woman diagnosed with luminal B breast cancer subtype and provide an in-depth analysis of her gene mutations, chromosomal alterations, mRNA and protein expression changes. We found a point mutation in the FGFR2 gene, which is potentially hyper-activating the receptor function, along with over-expression of its ligand FGF20 due to genomic amplification. The patient also harbors somatic and germline mutations in some mismatch repair (MMR) genes, with a strong MMR mutational signature. The patient displays high microsatellite instability (MSI) and tumor mutational burden (TMB) status and increased levels of CTLA-4 and PD-1 expression. Altogether, these data strongly implicate that aberrant FGFR signaling, and defective MMR system might be involved in the development of this breast tumor. In addition, high MSI and TMB in the context of CTLA-4 and PD-L1 positivity, suggest the potential benefit of immune checkpoint inhibitors. Accurate characterization of molecular subtypes, based on gene mutational and expression profiling analyses, will be certainly helpful for individualized treatment and targeted therapy of breast cancer patients, especially for those subtypes with adverse outcome.
000265365 536__ $$0G:(DE-HGF)POF4-351$$a351 - Brain Function (POF4-351)$$cPOF4-351$$fPOF IV$$x0
000265365 588__ $$aDataset connected to DataCite
000265365 7001_ $$00000-0002-1575-8725$$aSmirnov, Artem$$b1
000265365 7001_ $$aBuonomo, Oreste Claudio$$b2
000265365 7001_ $$aMauriello, Alessandro$$b3
000265365 7001_ $$aShi, Yufang$$b4
000265365 7001_ $$aBischof, Julia$$b5
000265365 7001_ $$aWoodsmith, Jonathan$$b6
000265365 7001_ $$aBove, Pierluigi$$b7
000265365 7001_ $$aRovella, Valentina$$b8
000265365 7001_ $$aScimeca, Manuel$$b9
000265365 7001_ $$aSica, Giuseppe$$b10
000265365 7001_ $$aTisone, Giuseppe$$b11
000265365 7001_ $$aWang, Ying$$b12
000265365 7001_ $$aServadei, Francesca$$b13
000265365 7001_ $$0P:(DE-2719)9001390$$aMelino, Gerry$$b14$$udzne
000265365 7001_ $$00000-0001-8332-4825$$aCandi, Eleonora$$b15
000265365 7001_ $$00000-0002-8883-8654$$aBernassola, Francesca$$b16
000265365 773__ $$0PERI:(DE-600)2842546-7$$a10.1038/s41420-023-01650-4$$gVol. 9, no. 1, p. 365$$n1$$p365$$tCell death discovery$$v9$$x2058-7716$$y2023
000265365 8564_ $$uhttps://pub.dzne.de/record/265365/files/DZNE-2023-00989.pdf$$yOpenAccess
000265365 8564_ $$uhttps://pub.dzne.de/record/265365/files/DZNE-2023-00989.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000265365 909CO $$ooai:pub.dzne.de:265365$$pdnbdelivery$$pdriver$$pVDB$$popen_access$$popenaire
000265365 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9001390$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b14$$kDZNE
000265365 9131_ $$0G:(DE-HGF)POF4-351$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vBrain Function$$x0
000265365 9141_ $$y2023
000265365 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000265365 915__ $$0LIC:(DE-HGF)CCBY4$$2HGFVOC$$aCreative Commons Attribution CC BY 4.0
000265365 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bCELL DEATH DISCOV : 2022$$d2023-08-22
000265365 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2023-08-22
000265365 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2023-08-22
000265365 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2023-08-22
000265365 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2023-05-02T09:09:37Z
000265365 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2023-05-02T09:09:37Z
000265365 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Anonymous peer review$$d2023-05-02T09:09:37Z
000265365 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2023-08-22
000265365 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2023-08-22
000265365 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2023-08-22
000265365 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2023-08-22
000265365 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bCELL DEATH DISCOV : 2022$$d2023-08-22
000265365 9201_ $$0I:(DE-2719)1013003$$kAG Bano$$lAging and Neurodegeneration$$x0
000265365 9201_ $$0I:(DE-2719)5000018$$kAG Nicotera$$lSynaptic Connectivity and Neurodegeneration$$x1
000265365 980__ $$ajournal
000265365 980__ $$aVDB
000265365 980__ $$aUNRESTRICTED
000265365 980__ $$aI:(DE-2719)1013003
000265365 980__ $$aI:(DE-2719)5000018
000265365 9801_ $$aFullTexts