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dc.contributor.author Cimas, FJ
dc.contributor.author Manzano, A
dc.contributor.author Baliu-Piqué, M
dc.contributor.author García-Gil, E
dc.contributor.author Pérez-Segura, P
dc.contributor.author Nagy, Ádám
dc.contributor.author Pandiella, A
dc.contributor.author Győrffy, Balázs
dc.contributor.author Ocana, A
dc.date.accessioned 2021-08-30T07:51:40Z
dc.date.available 2021-08-30T07:51:40Z
dc.date.issued 2020
dc.identifier 85089402503
dc.identifier.citation journalVolume=12;journalIssueNumber=8;pagination=2243, pages: 15;journalTitle=CANCERS;journalAbbreviatedTitle=CANCERS;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/8487
dc.identifier.uri doi:10.3390/cancers12082243
dc.description.abstract Treatment with anti-PD-L1 antibodies has shown efficacy in basal-like breast cancer. In this context, identification of pre-activated immune tumors is a main goal. Here we explore mutations in PD1 and PD-L1 high-expressing tumors to identify genomic correlates associated with outcome. To do so, RNA-seq and mutation data from 971 breast cancer patients from the TCGA dataset were used to identify most prevalent mutations in patients with high levels of PD1 and PD-L1. Transcriptomic signatures associated with the selected mutations were identified and analyzed in terms of outcome and immune cell infiltration. We identified co-occurrent mutations in RYR2 and AHNAK in 8% and 5% of basal-like tumors respectively, which conferred good prognosis in patients with high expression of PD1 and PD-L1 genes. The transcriptomic signature associated with these mutations, composed of CXCL9, GBP5, C1QA, IL2RG, CSF2RB, IDO1 and LAG3 genes, also conferred good prognosis and correlated with immune infiltrations within the tumors. The joint signature classified patients with favorable relapse-free survival (HR: 0.28; CI: 0.2–0.38; p = 1.7 × 10−16) and overall survival (HR: 0.18; CI: 0.09–0.34; p = 6.8 × 10−9), showing a stronger prediction capacity than previous reported signatures. In conclusion, we describe two novel mutations and their transcriptomic signature, both associated with a favorable outcome and immune infiltrates in PD1 and PD-L1 high-expressing basal-like tumors. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
dc.format.extent 1-15
dc.relation.ispartof urn:issn:2072-6694
dc.title Genomic mapping identifies mutations in ryr2 and ahnak as associated with favorable outcome in basal-like breast tumors expressing pd1/pd-l1
dc.type Journal Article
dc.date.updated 2020-09-22T12:06:42Z
dc.language.rfc3066 en
dc.rights.holder NULL
dc.identifier.mtmt 31411617
dc.contributor.department SE/AOK/I/Bioinformatika Tanszék
dc.contributor.department SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution Semmelweis Egyetem


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