https://m2.mtmt.hu/ hun 2026-05-30 14:33 JournalArticle 31411617 VALIDATED true 0 false 2026-05-20T03:50:26.152+0000 2024-09-13T12:31:43.491+0000 2020-08-25T10:12:42.533+0000 true 10010445 Gál Péter /api/author/10010445 Author Gál Péter (Szerkezeti biokémia) true 10010445 2024-09-13T12:31:36.657+0000 2024-09-13T12:31:36.657+0000 2024-09-13T12:31:43.771+0000 true 10015546 Berhidi Anna /api/admin/10015546 Admin Berhidi Anna (SE_KK_Admin5_BA, admin) true 10015546 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Cimas, F.J. true true /api/journal/10032813 REVIEWED CANCERS 2072-6694 true false 10032813 false 10032813 true 2072-6694 Journal FOREIGN 12 8 2243 2243 15 2020 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. true 2020 true true true false true false GOLD 2026-05-20 true https://doi.org/10.3390/cancers12082243 29 0 29 26 2 29 29 27 27 29 29 26 26 26 3 0 29 26 29 26 0 3 3 Folyóiratcikk Journal Article 24 29 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2020 0 1 0 1 0 2021 0 6 6 6 6 2022 0 8 8 8 8 2023 0 8 7 8 7 2024 0 1 0 1 0 2025 0 5 5 5 5 Q1 false false false false 2020-11-19T09:41:40.328+0000 Bioinformatika Tanszék (SE / AOK / I); Enzimológiai Intézet (TTK); II. 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Gyermekgyógyászati Klinika (SE / AOK / K); Onkológiai Biomarker Kutatócsoport (Lendület) (HRN TTK / MÉI) 2 26 4 9 0 true Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 92352530 /api/authorship/92352530 Cimas, F.J. 1 0.11111111 true false false Cimas F.J. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 92352531 /api/authorship/92352531 Manzano, A. 2 0.11111111 false false false Manzano A. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 92352532 /api/authorship/92352532 Baliu-Piqué, M. 3 0.11111111 false false false Baliu-Piqué M. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 92352533 /api/authorship/92352533 García-Gil, E. 4 0.11111111 false false false García-Gil E. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 92352534 /api/authorship/92352534 Pérez-Segura, P. 5 0.11111111 false false false Pérez-Segura P. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 92352535 /api/authorship/92352535 Nagy, Á. [Nagy, Ádám (biológia), szerző] Enzimológiai Intézet (TTK); II. Sz. Gyermekgyógyászati Klinika (SE / AOK / K); Bioinformatika Tanszék (SE / AOK / I) 6 0.11111111 false false false Author 10047679 /api/author/10047679 Nagy Ádám (biológia) Nagy Ádám true 10047679 true Nagy Á. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 92352536 /api/authorship/92352536 Pandiella, A. 7 0.11111111 false false false Pandiella A. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 92352537 /api/authorship/92352537 Győrffy, B. [Győrffy, Balázs (Onkológia), szerző] II. Sz. Gyermekgyógyászati Klinika (SE / AOK / K); Onkológiai Biomarker Kutatócsoport (Lendület) (HRN TTK / MÉI); Bioinformatika Tanszék (SE / AOK / I) 8 0.11111111 false false false Author 10000109 /api/author/10000109 Győrffy Balázs (Onkológia) Győrffy Balázs true 10000109 true Győrffy B. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 92352538 /api/authorship/92352538 Ocana, A. ✉ 9 0.11111111 false true true Ocana A. true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PublicationIdentifier 17137771 /api/publicationidentifier/17137771 DOI: 10.3390/cancers12082243 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3390/cancers12082243 https://doi.org/10.3390/cancers12082243 false true PublicationIdentifier 17765971 /api/publicationidentifier/17765971 SE Repozitórium: 8487 SwordSource 84 /api/publicationsource/84 SE Repozitórium PublicationSourceType 10007 /api/publicationsourcetype/10007 Repozitórium true true true SE Repozitórium SE Repozitórium https://repo.lib.semmelweis.hu/handle/123456789/@@@ true true 84 true GREEN true IDENTICAL 8487 https://repo.lib.semmelweis.hu/handle/123456789/8487 false true PublicationIdentifier 17765967 /api/publicationidentifier/17765967 REAL: 114054 SwordSource 36 /api/publicationsource/36 REAL PublicationSourceType 10007 /api/publicationsourcetype/10007 Repozitórium true true true REAL REAL http://real.mtak.hu/@@@ true true 36 true GREEN true 114054 http://real.mtak.hu/114054 false true PublicationIdentifier 17851211 /api/publicationidentifier/17851211 WoS: 000579050800001 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000579050800001 https://www.webofscience.com/wos/woscc/full-record/000579050800001 true true PublicationIdentifier 17137770 /api/publicationidentifier/17137770 Scopus: 85089402503 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85089402503 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85089402503 false true PublicationIdentifier 17889838 /api/publicationidentifier/17889838 PubMed: 32796628 PlainSource 17 /api/publicationsource/17 PubMed PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 32796628 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32796628&dopt=Abstract true true Keyword 643 /api/keyword/643 CANCER true 643 true Keyword 14256 /api/keyword/14256 immunotherapy true 14256 true Keyword 1453506 /api/keyword/1453506 PD-L1 true 1453506 true Keyword 1856022 /api/keyword/1856022 RyR2 true true Keyword 1977863 /api/keyword/1977863 infiltrating lymphocytes true true Keyword 2034652 /api/keyword/2034652 AHNAK true true Keyword 2034653 /api/keyword/2034653 Basal-like tumors true true SjrRating 10866019 /api/sjrrating/10866019 sjr:Q1 (2020) Scopus - Oncology CANCERS 2072-6694 63 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 2730 /api/classificationexternal/2730 Scopus - Oncology true 2730 true Q1 DIRECT true true Reference 2673498 /api/reference/2673498 1. 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(2020) CANCERS 2072-6694 12 8<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Cimas F.J. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Manzano A. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Baliu-Piqué M. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >García-Gil E. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Pérez-Segura P. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10047679"><a href="/gui2/?type=authors&mode=browse&sel=10047679" target="_blank">Nagy Á. (<span class="authorship-author-name">Nagy Ádám</span> <span class="authorAux-mtmt"> biológia</span>) </a> </span> <span class="author-affil"><span title="Természettudományi Kutatóközpont">TTK</span>/Enzimológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Gyermekgyógyászati Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Bioinformatika Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Pandiella A. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000109"><a href="/gui2/?type=authors&mode=browse&sel=10000109" target="_blank">Győrffy B. (<span class="authorship-author-name">Győrffy Balázs</span> <span class="authorAux-mtmt"> Onkológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Gyermekgyógyászati Klinika; <span title="Természettudományi Kutatóközpont">TTK</span>/<span title="Enzimológiai Intézet">EI</span>/Onkológiai Biomarker Kutatócsoport (Lendület); <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Bioinformatika Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Ocana A. ✉ </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;31411617" target="_blank">Genomic mapping identifies mutations in ryr2 and ahnak as associated with favorable outcome in basal-like breast tumors expressing pd1/pd-l1</a></div> <div> <span class="journal-title">CANCERS</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2072-6694">2072-6694</a>)</span>: <span class="journal-volume">12</span> <span class="journal-issue">8</span> <span class="page"> Paper 2243. 15 p. </span> <span class="year">(2020)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/cancers12082243" target="_blank" href="https://doi.org/10.3390/cancers12082243"> DOI </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="8487" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/8487"> SE Repozitórium </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:black" title="114054" target="_blank" href="http://real.mtak.hu/114054"> REAL </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000579050800001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000579050800001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85089402503" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85089402503"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="32796628" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32796628&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Oncology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Cancer Research&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 29</span> | Független: 26 | Függő: 3 | Nem jelölt: 0 | WoS jelölt: 27 | Scopus jelölt:&nbsp;27 | WoS/Scopus jelölt:&nbsp;29 | DOI jelölt:&nbsp;29 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;31411617&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 3 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 31411617</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">Scopus</span> </div> <div class="lastModified">Utolsó módosítás: 2024.09.13. 14:31 Berhidi Anna (SE_KK_Admin5_BA, admin) </div> </div></div>