https://m2.mtmt.hu/ hun 2026-04-16 02:02 JournalArticle 35649391 APPROVED true Department of Molecular Genetics, The National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Centre, Ráth György u. 7-9, Budapest, 1122, Hungary HUN-REN-SE Hereditary Tumours Research Group, Hungarian Research Network, Nagyvárad tér 4, Budapest, 1089, Hungary Department of Laboratory Medicine, Semmelweis University, Nagyvárad tér 4, Budapest, 1089, Hungary Department of Oncology Biobank, National Institute of Oncology, Comprehensive Cancer Centre, Ráth György u. 7-9, Budapest, 1122, Hungary Export Date: 9 January 2025 Correspondence Address: Butz, H.; Department of Molecular Genetics, Ráth György u. 7-9, Hungary; email: butz.henriett@oncol.hu Chemicals/CAS: BRCA1 Protein; BRCA2 Protein; BRCA2 protein, human 0 false 2026-02-11T08:05:37.443+0000 2025-03-27T12:06:45.162+0000 2024-12-23T07:45:23.387+0000 true 10081340 Pirmann Tamás /api/admin/10081340 Admin true 2025-12-16T10:12:03.326+0000 Admin 10025544 /api/admin/10025544 Lévayné Deseő Katalin true 10025544 true 2025-06-04T23:15:11.300+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 Nagy, Petra Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. true true /api/journal/10003252 REVIEWED true false 10003252 false 10003252 true 1661-6596 1422-0067 Journal FOREIGN 25 23 12546 12546 20 2024 Using multigene panel testing for the diagnostic evaluation of patients with hereditary breast and ovarian cancer (HBOC) syndrome often identifies clinically actionable variants in genes with varying levels of penetrance. High-penetrance genes (BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53) inform specific clinical surveillance and therapeutic decisions, while recommendations for moderate-penetrance genes (ATM, BARD1, BRIP1, CHEK2, MLH1, MSH2, MSH6, PMS2, EPCAM, NF1, RAD51C, RAD51D) are more limited. A detailed disease history, including pedigree data, helps formulate the most appropriate and personalised management strategies. In this study, we evaluated the clinical benefits of comprehensive hereditary cancer gene panel testing and a pre-sent questionnaire in Hungarian patients with suspected HBOC syndrome. We prospectively enrolled 513 patients referred for HBOC testing. Of these, 463 met the genetic testing criteria, while 50 did not but were tested due to potential therapeutic indications. Additionally, a retrospective cohort of 47 patients who met the testing criteria but had previously only been tested for BRCA1/2 was also analysed. Among the 463 patients in the prospective cohort, 96 (20.7%) harboured pathogenic/likely pathogenic (P/LP) variants-67 in high-penetrance genes and 29 in moderate-penetrance genes. This ratio was similar in the retrospective cohort (6/47; 12.7%). In patients who did not meet the testing criteria, no mutations in high-penetrance genes were found, and only 3 of 50 (6%) harboured P/LP variants in moderate-penetrance genes. Secondary findings (P/LP variants in non-HBOC-associated genes) were identified in two patients. In the prospective cohort, P/LP variants in BRCA1 and BRCA2 were the most prevalent (56/96; 58.3%), and the extended testing doubled the P/LP detection ratio. Among moderate-penetrance genes, five cases (three in the prospective and two in the retrospective cohorts) had P/LP variants in Lynch syndrome-associated genes. Further immunohistochemistry analysis of breast tumour tissues helped clarify the causative role of these variants. Comprehensive clinical and molecular genetic evaluation is beneficial for the diagnosis and management of patients with P/LP variants in hereditary tumour-predisposing genes and can serve as a basis for effective therapy selection, such as PARP inhibitors or immunotherapy. Funding 2048107 /api/funding/2048107 false true Funding 2048108 /api/funding/2048108 false true Funding 2048109 /api/funding/2048109 false true Funding 2048110 /api/funding/2048110 false true Funding 2048111 /api/funding/2048111 false true Funding 2048112 /api/funding/2048112 false true Funding 2048113 /api/funding/2048113 false true Funding 2048114 /api/funding/2048114 false true Funding 2048115 /api/funding/2048115 false true true true 2024 true true true false true false GOLD 2026-02-11 false http://www.mdpi.com/journal/ijms 8 0 8 5 3 6 7 5 7 7 7 4 4 5 3 0 8 5 8 5 0 8 8 Folyóiratcikk Journal Article 24 7 Könyvrészlet Chapter in Book 25 1 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 2025 0 8 5 8 5 D1 false false false false 2024-12-29T09:46:44.631+0000 HUN-REN-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT); Laboratóriumi Medicina Intézet (SE / AOK / I); Országos Onkológiai Intézet 8 18 3 8 0 true 10025544 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 122505292 /api/authorship/122505292 1 0.125 true 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 122505293 /api/authorship/122505293 2 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 122505294 /api/authorship/122505294 3 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 122505295 /api/authorship/122505295 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 122505296 /api/authorship/122505296 5 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 122505297 /api/authorship/122505297 6 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 122505298 /api/authorship/122505298 7 0.125 false false 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 PersonAuthorship 122505299 /api/authorship/122505299 8 0.125 false true 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 PublicationIdentifier 28127012 /api/publicationidentifier/28127012 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/ijms252312546 https://doi.org/10.3390/ijms252312546 false true PublicationIdentifier 28127013 /api/publicationidentifier/28127013 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false 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<img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <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="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>/HUN-REN-SE Örökletes Daganatok 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="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/HUN-REN-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>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/HUN-REN-SE Örökletes Daganatok Kutatócsoport; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet</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>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/HUN-REN-SE Örökletes Daganatok Kutatócsoport; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;35649391" target="_blank">Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.</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">25</span> <span class="journal-issue">23</span> <span class="page"> Paper 12546. 20 p. </span> <span class="year">(2024)</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/ijms252312546" target="_blank" href="https://doi.org/10.3390/ijms252312546"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001376338400001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001376338400001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85212391142" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85212391142"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="39684258" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39684258&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <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 - Computer Science Applications&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Inorganic Chemistry&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 - 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: 8</span> | Független: 5 | Függő: 3 | Nem jelölt: 0 | WoS jelölt: 5 | Scopus jelölt:&nbsp;7 | WoS/Scopus jelölt:&nbsp;7 | DOI jelölt:&nbsp;7 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;35649391&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 8 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 35649391</span> | <span class="status-data status-APPROVED"> Nyilvános </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"> (National Tumor Biology Laboratory (2022–2.1.1-NL-2022-00010))), (TKP2021-EGA), (TKP2021-NVA), (TKP2021-NKTA), (NRDI NKFI-FK135065), (ÚNKP-23-5-SE-4), (NKFIH-FK-138377), (ÚNKP-23-5-SE-16), (János Bolyai Postdoctoral Scholarship (BO/00141/21)) </div> <div class="lastModified">Utolsó módosítás: 2025.03.27. 13:06 Nádas Orsolya (OOI admin4) </div> <div class="lockedBy">Központi kezelésű 2025.06.05. 01:15 Lévayné Deseő Katalin (MTMT Központi admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Department of Molecular Genetics, The National Tumour Biology Laboratory, National Institute of Oncology, Comprehensive Cancer Centre, Ráth György u. 7-9, Budapest, 1122, Hungary HUN-REN-SE Hereditary Tumours Research Group, Hungarian Research Network, Nagyvárad tér 4, Budapest, 1089, Hungary Department of Laboratory Medicine, Semmelweis Universit...</pre> </div></div>