https://m2.mtmt.hu/ hun 2026-09-23 08:36 JournalArticle 36310601 VALIDATED true Patocs and Butz authors contributed equally to this work. 0 false 2026-06-15T18:03:47.392+0000 2026-04-21T11:13:50.653+0000 2025-09-01T08:07:54.797+0000 true 10015206 Áncsán Gizella /api/admin/10015206 Admin Áncsán Gizella (SE admin) true 10015206 2026-04-28T12:00:39.286+0000 2026-04-21T11:13:50.859+0000 true 10101957 Pirmann Tamás /api/admin/10101957 Admin Pirmann Tamás (OOI admin4) true Admin 10013962 /api/admin/10013962 Vasvari Lilian (MTMT Központ, admin) Vasvari Lilian true 10013962 true 2026-06-15T18:02:42.507+0000 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 Pócza, Tímea true true /api/journal/10003252 REVIEWED INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 1661-6596 1422-0067 true false 10003252 false 10003252 true 1661-6596 1422-0067 Journal FOREIGN 26 17 8390 8390 14 2025 Identification of two or more pathogenic/likely pathogenic (P/LP) variants in cancer susceptibility genes carried by the same patient have important consequences for patient management. We have limited information about the effect of double heterozygosity (DH) in cancer susceptibility genes. The prevalence of DH among Hungarian cancer patients referred to oncogenetic counselling, and comparison of their phenotypes to single variant carriers were performed. In total, 2050 patients were analysed by multigene panel sequencing. Variants of 48 established cancer predisposition genes by ACMG guidelines were evaluated. In overall, P/LP variants were found in 19.8% of cases. DH was observed in 16 cases, amount to 0.8% of all patients, and to 4.0% of positive cases. Appearance of multiple primary tumours was not associated with DH compared to non-P/LP and single P/LP carriers (p = 0.71 and p = 0.54, respectively). Within a cohort of patients referred with suspected HBOC syndrome, earlier tumour formation was observed when DH cases were compared to non-P/LP carriers (p = 0.01), but difference between single and DH carriers was not statistically significant (p = 0.19; Bonferroni corrected alpha = 0.017). Our observations provide information about the incidence of DH status among Hungarian hereditary cancer patients and suggest that DH did not increase the risk of cancer compared to individuals with single P/LP mutation. Funding 2057368 /api/funding/2057368 (National Tumor Biology Laboratory (2022–2.1.1-NL-2022-00010))) false true Funding 2057369 /api/funding/2057369 (TKP2021-EGA/TKP2021-NVA/TKP2021-NKTA) false true true INTERNATIONAL 2025 true true true false true false GOLD 2026-06-15 false http://www.mdpi.com/journal/ijms 1 0 1 1 0 1 1 1 0 1 1 1 1 1 0 0 1 1 1 1 0 4 4 Folyóiratcikk Journal Article 24 1 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 2026 0 1 1 1 1 D1 false false false false 2025-09-21T10:56:16.028+0000 HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócso... (OOI); Laboratóriumi Medicina Intézet (SE / AOK / I); Országos Onkológiai Intézet 7 19 3 7 0 true 10013962 Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 127682680 /api/authorship/127682680 Pócza, Tímea [Pócza, Tímea (Biológus), szerző] Országos Onkológiai Intézet; HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócso... (OOI) 1 0.143 true false false Author 10050691 /api/author/10050691 Pócza Tímea (Biológus) Pócza Tímea true 10050691 true Pócza Tímea true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 127682681 /api/authorship/127682681 Papp, János [Papp, János (molekuláris genetika), szerző] Országos Onkológiai Intézet; HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócso... (OOI) 2 0.143 false false false Author 10040551 /api/author/10040551 Papp János (molekuláris genetika) Papp János true 10040551 true Papp János true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 127682682 /api/authorship/127682682 Bozsik, Anikó [Bozsik, Anikó (Molekuláris bioló...), szerző] Országos Onkológiai Intézet; HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócso... (OOI) 3 0.143 false false false Author 10040748 /api/author/10040748 Bozsik Anikó (Molekuláris biológia, genetika) Bozsik Anikó true 10040748 true Bozsik Anikó true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 127682683 /api/authorship/127682683 Grolmusz, Vince Kornél [Grolmusz, Vince Kornél (orvostudomány), szerző] Országos Onkológiai Intézet; HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócso... (OOI) 4 0.143 false false false Author 10032280 /api/author/10032280 Grolmusz Vince Kornél (orvostudomány) Grolmusz Vince Kornél true 10032280 true Grolmusz Vince Kornél true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 127682684 /api/authorship/127682684 Nagy, Petra [Nagy, Petra (orvostudomány, kl...), szerző] 5 0.14285715 false false false Author 10099870 /api/author/10099870 Nagy Petra (orvostudomány, klinikai genetika) Nagy Petra true true Nagy Petra true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 127682685 /api/authorship/127682685 Patócs, Attila** ✉ [Patócs, Attila Balázs (Orvostudomány), szerző] Országos Onkológiai Intézet; Laboratóriumi Medicina Intézet (SE / AOK / I); HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócso... (OOI) 6 0.143 false true true Author 10001006 /api/author/10001006 Patócs Attila Balázs (Orvostudomány) Patócs Attila Balázs true 10001006 true Patócs Attila true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 127682686 /api/authorship/127682686 Butz, Henriett ✉ [Butz, Henriett (orvostudomány), szerző] Országos Onkológiai Intézet; Laboratóriumi Medicina Intézet (SE / AOK / I); HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócso... 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(2025) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 1661-6596 1422-0067 26 17<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="10050691"><a href="/gui2/?type=authors&mode=browse&sel=10050691" target="_blank">Pócza Tímea (<span class="authorship-author-name">Pócza Tímea</span> <span class="authorAux-mtmt"> Biológus</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Országos Onkológiai Intézet">OOI</span>/HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040551"><a href="/gui2/?type=authors&mode=browse&sel=10040551" target="_blank">Papp János (<span class="authorship-author-name">Papp János</span> <span class="authorAux-mtmt"> molekuláris genetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Országos Onkológiai Intézet">OOI</span>/HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040748"><a href="/gui2/?type=authors&mode=browse&sel=10040748" target="_blank">Bozsik Anikó (<span class="authorship-author-name">Bozsik Anikó</span> <span class="authorAux-mtmt"> Molekuláris biológia, genetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Országos Onkológiai Intézet">OOI</span>/HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10032280"><a href="/gui2/?type=authors&mode=browse&sel=10032280" target="_blank">Grolmusz Vince Kornél (<span class="authorship-author-name">Grolmusz Vince Kornél</span> <span class="authorAux-mtmt"> orvostudomány</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Országos Onkológiai Intézet">OOI</span>/HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10099870"><a href="/gui2/?type=authors&mode=browse&sel=10099870" target="_blank">Nagy Petra (<span class="authorship-author-name">Nagy Petra</span> <span class="authorAux-mtmt"> orvostudomány, klinikai genetika</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10001006"><a href="/gui2/?type=authors&mode=browse&sel=10001006" target="_blank">Patócs Attila^** ✉ (<span class="authorship-author-name">Patócs Attila Balázs</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet; <span title="Országos Onkológiai Intézet">OOI</span>/HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10020420"><a href="/gui2/?type=authors&mode=browse&sel=10020420" target="_blank">Butz Henriett ✉ (<span class="authorship-author-name">Butz Henriett</span> <span class="authorAux-mtmt"> orvostudomány</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet; <span title="Országos Onkológiai Intézet">OOI</span>/HUN-REN-ONKOL-TTK-HCEMM Onkogenomikai Kutatócsoport</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;36310601" target="_blank">Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients</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">26</span> <span class="journal-issue">17</span> <span class="page"> Paper 8390. 14 p. </span> <span class="year">(2025)</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_none" title="none"> <a style="color:blue" title="10.3390/ijms26178390" target="_blank" href="https://doi.org/10.3390/ijms26178390"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001569796800001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001569796800001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="105015894646" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-105015894646"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="40943312" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=40943312&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_NONE" title=" Nincs "> <a style="color:blue" title="https://www.scopus.com/inward/record.uri?eid=2-s2.0-105015894646&doi=10.3390%2Fijms26178390&partnerID=40&md5=bc2be25824181d1110649b54689f1a5a" target="_blank" href="https://www.scopus.com/inward/record.uri?eid=2-s2.0-105015894646&doi=10.3390%2Fijms26178390&partnerID=40&md5=bc2be25824181d1110649b54689f1a5a"> Egyéb URL </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 - Organic 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 - Catalysis&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</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 - Physical and Theoretical Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</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: 1</span> | Független: 1 | Függő: 0 | Nem jelölt: 0 | WoS jelölt: 1 | WoS/Scopus jelölt:&nbsp;1 | DOI jelölt:&nbsp;1 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;36310601&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 4 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 36310601</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"> (National Tumor Biology Laboratory (2022–2.1.1-NL-2022-00010))), (TKP2021-EGA/TKP2021-NVA/TKP2021-NKTA) </div> <div class="lastModified">Utolsó módosítás: 2026.04.21. 13:13 Pirmann Tamás (OOI admin4) </div> <div class="lockedBy">Központi kezelésű 2026.06.15. 20:02 Vasvari Lilian (MTMT Központ, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Patocs and Butz authors contributed equally to this work.</pre> </div></div>