265365 20231120155359.0 pmid:37783677 pmid 10.1038/s41420-023-01650-4 doi pmc:PMC10545677 pmc altmetric:155311198 altmetric DZNE-2023-00989 610 Yang, Xue 0 A primary luminal/HER2 negative breast cancer patient with mismatch repair deficiency London 2023 Nature Publishing Group article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1697198295_22039 PUB:(DE-HGF) ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote Here, 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. 351 - Brain Function (POF4-351) G:(DE-HGF)POF4-351 POF4-351 POF IV 0 Dataset connected to DataCite Smirnov, Artem 0000-0002-1575-8725 1 Buonomo, Oreste Claudio 2 Mauriello, Alessandro 3 Shi, Yufang 4 Bischof, Julia 5 Woodsmith, Jonathan 6 Bove, Pierluigi 7 Rovella, Valentina 8 Scimeca, Manuel 9 Sica, Giuseppe 10 Tisone, Giuseppe 11 Wang, Ying 12 Servadei, Francesca 13 Melino, Gerry P:(DE-2719)9001390 14 dzne Candi, Eleonora 0000-0001-8332-4825 15 Bernassola, Francesca 0000-0002-8883-8654 16 10.1038/s41420-023-01650-4 Vol. 9, no. 1, p. 365 PERI:(DE-600)2842546-7 1 365 Cell death discovery 9 2023 2058-7716 OpenAccess http://pub.dzne.de/record/265365/files/DZNE-2023-00989.pdf OpenAccess pdfa http://pub.dzne.de/record/265365/files/DZNE-2023-00989.pdf?subformat=pdfa oai:pub.dzne.de:265365 openaire open_access VDB driver dnbdelivery Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 14 P:(DE-2719)9001390 DE-HGF Gesundheit Neurodegenerative Diseases G:(DE-HGF)POF4-350 G:(DE-HGF)POF4-351 G:(DE-HGF)POF4 G:(DE-HGF)POF4-300 G:(DE-HGF)POF Brain Function 0 2023 OpenAccess StatID:(DE-HGF)0510 StatID Creative Commons Attribution CC BY 4.0 LIC:(DE-HGF)CCBY4 HGFVOC JCR StatID:(DE-HGF)0100 StatID CELL DEATH DISCOV : 2022 2023-08-22 DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS 2023-08-22 DBCoverage StatID:(DE-HGF)0300 StatID Medline 2023-08-22 DBCoverage StatID:(DE-HGF)0320 StatID PubMed Central 2023-08-22 DBCoverage StatID:(DE-HGF)0501 StatID DOAJ Seal 2023-05-02T09:09:37Z DBCoverage StatID:(DE-HGF)0500 StatID DOAJ 2023-05-02T09:09:37Z Peer Review StatID:(DE-HGF)0030 StatID DOAJ : Anonymous peer review 2023-05-02T09:09:37Z DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List 2023-08-22 DBCoverage StatID:(DE-HGF)1050 StatID BIOSIS Previews 2023-08-22 DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection 2023-08-22 DBCoverage StatID:(DE-HGF)1030 StatID Current Contents - Life Sciences 2023-08-22 IF >= 5 StatID:(DE-HGF)9905 StatID CELL DEATH DISCOV : 2022 2023-08-22 I:(DE-2719)1013003 AG Bano Aging and Neurodegeneration 0 I:(DE-2719)5000018 AG Nicotera Synaptic Connectivity and Neurodegeneration 1 journal VDB UNRESTRICTED I:(DE-2719)1013003 I:(DE-2719)5000018 FullTexts