https://m2.mtmt.hu/ hun 2026-09-23 06:34 JournalArticle 32587869 VALIDATED true 0 false 2026-08-27T10:09:54.332+0000 2024-12-06T18:00:17.725+0000 2022-01-12T10:27:06.257+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true 2023-09-26T10:45:16.197+0000 2023-09-26T10:45:16.197+0000 2024-12-06T18:00:17.941+0000 true 10039043 Milánkovics Róbert /api/admin/10039043 Admin true 10039043 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Pálinkás, H.L. Primary Founder Mutations in the PRKDC Gene Increase Tumor Mutation Load in Colorectal Cancer true true /api/journal/10003252 REVIEWED true false 10003252 false 10003252 true 1661-6596 1422-0067 Journal FOREIGN 23 2 633 633 14 2022 The clonal composition of a malignant tumor strongly depends on cellular dynamics influenced by the asynchronized loss of DNA repair mechanisms. Here, our aim was to identify founder mutations leading to subsequent boosts in mutation load. The overall mutation burden in 591 colorectal cancer tumors was analyzed, including the mutation status of DNA-repair genes. The number of mutations was first determined across all patients and the proportion of genes having mutation in each percentile was ranked. Early mutations in DNA repair genes preceding a mutational expansion were designated as founder mutations. Survival analysis for gene expression was performed using microarray data with available relapse-free survival. Of the 180 genes involved in DNA repair, the top five founder mutations were in PRKDC (n = 31), ATM (n = 26), POLE (n = 18), SRCAP (n = 18), and BRCA2 (n = 15). PRKDC expression was 6.4-fold higher in tumors compared to normal samples, and higher expression led to longer relapse-free survival in 1211 patients (HR = 0.72, p = 4.4 × 10−3). In an experimental setting, the mutational load resulting from UV radiation combined with inhibition of PRKDC was analyzed. Upon treatments, the mutational load exposed a significant two-fold increase. Our results suggest PRKDC as a new key gene driving tumor heterogeneity. Funding 2011447 /api/funding/2011447 false true Funding 2011448 /api/funding/2011448 false true Funding 2011449 /api/funding/2011449 false true Funding 2011450 /api/funding/2011450 false true Funding 2011451 /api/funding/2011451 false true Funding 2011453 /api/funding/2011453 false true Funding 2012851 /api/funding/2012851 false true Funding 2012852 /api/funding/2012852 false true true 2022 true true true false true false GOLD 2026-08-27 true https://doi.org/10.3390/ijms23020633 5 0 4 4 0 4 5 4 3 4 4 4 4 5 0 0 5 5 4 4 0 2 2 Folyóiratcikk Journal Article 24 4 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 1 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 2023 0 2 2 2 2 2024 0 0 0 0 0 2025 0 2 2 2 2 2026 0 1 1 1 1 D1 false 10018697 false false false 2022-01-11T10:34:22.367+0000 Alkalmazott Biotechnológia és Élelmiszertudomán... (BME / VBK); Bioinformatika Tanszék (SE / AOK / I); II. Sz. Gyermekgyógyászati Klinika (SE / AOK / K); Onkológiai Biomarker Kutatócsoport (Lendület) (HRN TTK / MÉI) 7 44 4 9 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 99961959 /api/authorship/99961959 1 0.111 true false false Author 10055099 /api/author/10055099 Pálinkás Hajnalka Laura true 10055099 true Pálinkás H.L. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 99961960 /api/authorship/99961960 2 0.111 false false false Author 10045334 /api/author/10045334 Pongor Lőrinc true 10045334 true Pongor L. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 99961961 /api/authorship/99961961 3 0.11111111 false false false Balajti M. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 99961962 /api/authorship/99961962 4 0.111 false false false Author 10047679 /api/author/10047679 Nagy Ádám true 10047679 true Nagy Á. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 99961963 /api/authorship/99961963 5 0.111 false false false Author 10046690 /api/author/10046690 Nagy Kinga true 10046690 true Nagy K. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 99961964 /api/authorship/99961964 6 0.111 false false false Author 10018697 /api/author/10018697 Békési Angéla true 10018697 true Békési A. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 99961965 /api/authorship/99961965 7 0.11111111 false false false Bianchini G. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 99961966 /api/authorship/99961966 8 0.11111111 false false true Author 10001312 /api/author/10001312 Vértessy Beáta (Grolmuszné) true 10001312 true Vértessy B.G. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 99961967 /api/authorship/99961967 9 0.111 false true true Author 10000109 /api/author/10000109 Győrffy Balázs true 10000109 true Győrffy B. true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 20394703 /api/publicationidentifier/20394703 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3390/ijms23020633 https://doi.org/10.3390/ijms23020633 false true PublicationIdentifier 20703442 /api/publicationidentifier/20703442 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000758378500001 https://www.webofscience.com/wos/woscc/full-record/000758378500001 false true PublicationIdentifier 20394702 /api/publicationidentifier/20394702 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85122214894 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85122214894 false true PublicationIdentifier 20519437 /api/publicationidentifier/20519437 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 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 35054819 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=35054819&dopt=Abstract false true Keyword 643 /api/keyword/643 true 643 true Keyword 1168 /api/keyword/1168 true 1168 true Keyword 7986 /api/keyword/7986 true 7986 true Keyword 1268965 /api/keyword/1268965 true 1268965 true Keyword 1506385 /api/keyword/1506385 true true Keyword 1576829 /api/keyword/1576829 true true SjrRating 11289558 /api/sjrrating/11289558 7 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 1604 /api/classificationexternal/1604 true 1604 true D1 DIRECT true true /api/publication/32587869 <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" mtid="10055099"><a href="/gui2/?type=authors&mode=browse&sel=10055099" target="_blank">Pálinkás H.L. (<span class="authorship-author-name">Pálinkás Hajnalka Laura</span> <span class="authorAux-mtmt"> Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Budapesti Műszaki és Gazdaságtudományi Egyetem">BME</span>/<span title="Vegyészmérnöki és Biomérnöki Kar">VBK</span>/Alkalmazott Biotechnológia és Élelmiszertudományi Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10045334"><a href="/gui2/?type=authors&mode=browse&sel=10045334" target="_blank">Pongor L. (<span class="authorship-author-name">Pongor Lőrinc</span> <span class="authorAux-mtmt"> Bioinformatika</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="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" >Balajti M. </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="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" mtid="10046690"><a href="/gui2/?type=authors&mode=browse&sel=10046690" target="_blank">Nagy K. (<span class="authorship-author-name">Nagy Kinga</span> <span class="authorAux-mtmt"> biotechnológia</span>) </a> </span> <span class="author-affil"><span title="Budapesti Műszaki és Gazdaságtudományi Egyetem">BME</span>/<span title="Vegyészmérnöki és Biomérnöki Kar">VBK</span>/Alkalmazott Biotechnológia és Élelmiszertudományi Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10018697"><a href="/gui2/?type=authors&mode=browse&sel=10018697" target="_blank">Békési A. (<span class="authorship-author-name">Békési Angéla</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Budapesti Műszaki és Gazdaságtudományi Egyetem">BME</span>/<span title="Vegyészmérnöki és Biomérnöki Kar">VBK</span>/Alkalmazott Biotechnológia és Élelmiszertudományi Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Bianchini G. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10001312"><a href="/gui2/?type=authors&mode=browse&sel=10001312" target="_blank">Vértessy B.G. ✉ (<span class="authorship-author-name">Vértessy Beáta (Grolmuszné)</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Budapesti Műszaki és Gazdaságtudományi Egyetem">BME</span>/<span title="Vegyészmérnöki és Biomérnöki Kar">VBK</span>/Alkalmazott Biotechnológia és Élelmiszertudományi Tanszék</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> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;32587869" target="_blank">Primary Founder Mutations in the PRKDC Gene Increase Tumor Mutation Load in Colorectal Cancer</a></div> <div> <span class="journal-title">INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1661-6596">1661-6596</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1422-0067">1422-0067</a>)</span>: <span class="journal-volume">23</span> <span class="journal-issue">2</span> <span class="page"> Paper 633. 14 p. </span> <span class="year">(2022)</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/ijms23020633" target="_blank" href="https://doi.org/10.3390/ijms23020633"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000758378500001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000758378500001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85122214894" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85122214894"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="35054819" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=35054819&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Inorganic Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Spectroscopy&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Computer Science Applications&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Organic Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Physical and Theoretical Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Catalysis&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Molecular Biology&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: 5</span> | Független: 5 | Függő: 0 | Nem jelölt: 0 | WoS jelölt: 4 | Scopus jelölt:&nbsp;3 | WoS/Scopus jelölt:&nbsp;4 | DOI jelölt:&nbsp;5 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;32587869&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 32587869</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="funder"> (K135231), (VEKOP-2.3.2-16-2017-00013) Támogató: NKTH, (2018-2.1.17-TET-KR-00001) Támogató: NKFI, (2020-1.1.6-JOVO-2021-00013), (FIEK-16-1-2016-0005), (2020-4.1.1-TKP2020) Támogató: NKFIH, (NKP-2018-1.2.1-NKP-2018-00005), (BME FIKP-BIO) </div> <div class="lastModified">Utolsó módosítás: 2024.12.06. 19:00 Milánkovics Róbert (PTE ÁOK admin 4) </div> </div></div>