https://m2.mtmt.hu/ hun 2026-09-23 00:46 JournalArticle 34122532 VALIDATED true Funding Agency and Grant Number: Hungarian Scientific Research Grant [NRDI FK135065]; New National Excellence Program of the Ministry of Human Capacities [UNKP-22-5-SE-1]; Bolyai Research Fellowship of the Hungarian Academy of Sciences; National Laboratories Excellence program [NLP17]; Ministry of Interior National Innovation Oncogenomic Program Funding text: This research was supported by the Hungarian Scientific Research Grant NRDI FK135065 and the New National Excellence Program of the Ministry of Human Capacities (UNKP-22-5-SE-1) to H.B. H.B. is a recipient of the Bolyai Research Fellowship of the Hungarian Academy of Sciences. H.B.and A.P. acknowledge financial support from the National Laboratories Excellence program (under the National Tumour Biology Laboratory project (NLP17)), Ministry of Interior National Innovation Oncogenomic Program. 0 false 2026-07-16T11:35:16.894+0000 2025-03-27T12:08:52.670+0000 2023-09-01T06:44:25.158+0000 true 10015206 Áncsán Gizella /api/admin/10015206 Admin true 10015206 2026-07-07T08:32:32.640+0000 2023-09-18T11:00:46.072+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true Admin 10003134 /api/admin/10003134 Wolf György true 10003134 true 2024-04-11T07:19:53.187+0000 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 Butz, Henriett PALB2 Variants Extend the Mutational Profile of Hungarian Patients with Breast and Ovarian Cancer true true /api/journal/10032813 REVIEWED true false 10032813 false 10032813 true 2072-6694 Journal FOREIGN 15 17 4350 4350 15 2023 Background: The pathogenic/likely pathogenic (P/LP) variant detection rate and profile of PALB2, the third most important breast cancer gene, may vary between different populations. Methods: PALB2 was analyzed in peripheral blood samples of three independent cohorts: prospectively between September 2021 and March 2023 (i) in 1280 consecutive patients with breast and/or ovarian cancer (HBOC), (ii) in 568 patients with other cancers (controls), and retrospectively, (iii) in 191 young breast cancer (<33 years, yBC) patients. These data were compared with data of 134,187 non-cancer individuals retrieved from the Genome Aggregation Database. Results: Altogether, 235 cases (235/1280; 18.3%) carried at least one P/LP variant in one of the HBOC susceptibility genes. P/LP PALB2 variants were identified in 18 patients (1.4%; 18/1280) in the HBOC and 3 cases (1.5%; 3/191) in the yBC group. In the control group, only one patient had a disease-causing PALB2 variant (0.17%; 1/568) as a secondary finding not related to the disease, which was similar (0.15%; 205/134,187) in the non-cancer control group. The NM_024675.4:c.509_510delGA variant was the most common among our patients (33%; 6/18). We did not find a significant difference in the incidence of PALB2 disease-causing variants according to age; however, the median age of tumor onset was lower in PALB2 P/LP carriers versus wild-type patients (44 vs. 48 years). In our cohort, the odds ratio for breast cancer risk in women with PALB2 P/LP variants was between 8.1 and 9.3 compared to non-HBOC cancer patients and the non-cancer population, respectively. Conclusions: PALB2 P/LP variants are not uncommon among breast and/or ovarian cancer patients. Their incidence was the same in the two breast cancer cohorts studied but may occur rarely in patients with non-breast/ovarian cancer. The c.509_510delGA variant is particularly common in the studied Hungarian patient population. Funding 2030818 /api/funding/2030818 false true Funding 2030819 /api/funding/2030819 false true Funding 2030820 /api/funding/2030820 false true Funding 2030821 /api/funding/2030821 false true true NATIONAL 2023 true true true false true false GOLD 2026-07-16 false http://www.mdpi.com/journal/cancers/ 8 0 8 5 3 6 6 6 8 8 8 5 5 5 3 0 8 5 8 5 0 4 4 Folyóiratcikk Journal Article 24 8 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 2024 0 5 4 5 4 2025 0 2 0 2 0 2026 0 1 1 1 1 Q1 false false false false 2023-09-17T11:00:45.783+0000 Laboratóriumi Medicina Intézet (SE / AOK / I); MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT); Országos Onkológiai Intézet 8 19 3 8 0 true 10003134 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 109757229 /api/authorship/109757229 1 0.125 true false true Author 10020420 /api/author/10020420 Butz Henriett true 10020420 true Butz Henriett true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109757230 /api/authorship/109757230 2 0.125 false false false Author 10099870 /api/author/10099870 Nagy Petra true true Nagy Petra true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109757231 /api/authorship/109757231 3 0.125 false false false Author 10040551 /api/author/10040551 Papp János true 10040551 true Papp János true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109757232 /api/authorship/109757232 4 0.125 false false false Author 10040748 /api/author/10040748 Bozsik Anikó true 10040748 true Bozsik Anikó true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109757233 /api/authorship/109757233 5 0.125 false false false Author 10032280 /api/author/10032280 Grolmusz Vince Kornél true 10032280 true Grolmusz Vince Kornél true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109757234 /api/authorship/109757234 6 0.125 false false false Author 10050691 /api/author/10050691 Pócza Tímea true 10050691 true Pócza Tímea true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109757235 /api/authorship/109757235 7 0.125 false false false Author 1169389 /api/author/1169389 Oláh Edit true 1169389 true Oláh Edit true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109757236 /api/authorship/109757236 8 0.125 false true false Author 10001006 /api/author/10001006 Patócs Attila Balázs true 10001006 true Patócs Attila true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 24328880 /api/publicationidentifier/24328880 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true IDENTICAL 10.3390/cancers15174350 https://doi.org/10.3390/cancers15174350 false true PublicationIdentifier 24431072 /api/publicationidentifier/24431072 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 001064077600001 https://www.webofscience.com/wos/woscc/full-record/001064077600001 true 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title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <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="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok 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> <span class="author-affil">Országos Onkológiai Intézet</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> ;&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="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok 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="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <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> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="1169389"><a href="/gui2/?type=authors&mode=browse&sel=1169389" target="_blank">Oláh Edit (<span class="authorship-author-name">Oláh Edit</span> <span class="authorAux-mtmt"> molekuláris onkológia, molekuláris onkogenetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet</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="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34122532" target="_blank">PALB2 Variants Extend the Mutational Profile of Hungarian Patients with Breast and Ovarian Cancer</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">15</span> <span class="journal-issue">17</span> <span class="page"> Paper 4350. 15 p. </span> <span class="year">(2023)</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/cancers15174350" target="_blank" href="https://doi.org/10.3390/cancers15174350"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001064077600001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001064077600001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85170558990" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85170558990"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="37686625" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37686625&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: 8</span> | Független: 5 | Függő: 3 | Nem jelölt: 0 | WoS jelölt: 6 | Scopus jelölt:&nbsp;8 | WoS/Scopus jelölt:&nbsp;8 | DOI jelölt:&nbsp;6 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;34122532&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 4 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 34122532</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">kézi felvitel</span> </div> <div class="funder"> Hungarian Scientific Research Grant(NRDI FK135065), New National Excellence Program of the Ministry of Human Capacities(UNKP-22-5-SE-1), (Bolyai Research Fellowship of the Hungarian Academy of Sciences), National Laboratories Excellence program (under the National Tumor Biology Laboratory Project(NLP-17) </div> <div class="lastModified">Utolsó módosítás: 2025.03.27. 13:08 Nádas Orsolya (OOI admin4) </div> <div class="lockedBy">Központi kezelésű 2024.04.11. 09:19 Wolf György (MTMT Központi admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Funding Agency and Grant Number: Hungarian Scientific Research Grant [NRDI FK135065]; New National Excellence Program of the Ministry of Human Capacities [UNKP-22-5-SE-1]; Bolyai Research Fellowship of the Hungarian Academy of Sciences; National Laboratories Excellence program [NLP17]; Ministry of Interior National Innovation Oncogenomic Program Funding text: This research was suppo...</pre> </div></div>