https://m2.mtmt.hu/ hun 2026-09-20 14:45 JournalArticle 31876052 VALIDATED true Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary Hereditary Cancers Research Group, Hungarian Academy of Sciences-Semmelweis University, Budapest, Hungary Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary Alder Hey Children’s Hospital—NHS Foundation Trust, Liverpool, United Kingdom Semmelweis University, Budapest, Hungary Export Date: 29 July 2021 CODEN: EOCRE Correspondence Address: Patócs, A.; Department of Molecular Genetics, Hungary; email: patocs.attila@med.semmelweis-univ.hu 0 false 2026-05-20T15:08:53.528+0000 2024-04-11T08:24:49.764+0000 2021-02-16T11:45:22.336+0000 true 10070075 Nádas Orsolya /api/admin/10070075 Admin true 2026-05-20T08:41:31.244+0000 2024-04-11T08:24:49.944+0000 true 10003134 Wolf György /api/admin/10003134 Admin true 10003134 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 1134514 Survey paper true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/1134514 Összefoglaló cikk SubType 102 true 1134514 true 1 /api/category/1 Category true 1 Butz, Henriett Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes true true /api/journal/12039 REVIEWED true false 12039 false 12039 true 1355-008X 1559-0100 Journal FOREIGN 71 3 641 652 641 12 2021 Although current guidelines prefer the use of targeted testing or small-scale gene panels for identification of genetic susceptibility of hereditary endocrine tumour syndromes, next generation sequencing based strategies have been widely introduced into every day clinical practice. The application of next generation sequencing allows rapid testing of multiple genes in a cost effective manner. Increasing knowledge about these techniques and the demand from health care providers and society, shift the molecular genetic testing towards using high-throughput approaches.In this expert opinion, the authors consider the molecular diagnostic workflow step by step, evaluating options and challenges of gathering family information, pre- and post-test genetic counselling, technical and bioinformatical analysis related issues and difficulties in clinical interpretation focusing on molecular genetic testing of hereditary endocrine tumour syndromes.Considering all these factors, a diagnostic genetic workflow is also proposed for selection of the best approach for testing of patients with hereditary genetic tumour syndromes in order to minimalize difficult interpretation, unwanted patient anxiety, unnecessary medical interventions and cost. There are potential benefits of utilizing high throughput approaches however, important limitations have to be considered and should discussed towards the clinicians and patients. Funding 2008153 /api/funding/2008153 false true true 2021 true true true false true false NONE 2026-05-20 false 5 0 5 3 2 5 5 5 5 5 5 3 3 3 2 0 5 3 5 3 0 3 3 Folyóiratcikk Journal Article 24 5 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 2021 0 1 1 1 1 2022 0 0 0 0 0 2023 0 1 1 1 1 2024 0 1 0 1 0 2025 0 2 1 2 1 Q2 false false false false 2021-02-22T08:08:35.417+0000 Laboratóriumi Medicina Intézet (SE / AOK / I); MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT); Országos Onkológiai Intézet 2 14 3 3 0 true 10003134 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 95508149 /api/authorship/95508149 1 0.33333334 true false false 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 95508150 /api/authorship/95508150 2 0.33333334 false false false Blair Jo true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 95508151 /api/authorship/95508151 3 0.33333334 false true true 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 18441190 /api/publicationidentifier/18441190 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true IDENTICAL 10.1007/s12020-021-02636-x https://doi.org/10.1007/s12020-021-02636-x false true PublicationIdentifier 18534361 /api/publicationidentifier/18534361 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 000617094900001 https://www.webofscience.com/wos/woscc/full-record/000617094900001 true true PublicationIdentifier 18487051 /api/publicationidentifier/18487051 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 85100730061 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85100730061 false true PublicationIdentifier 18441189 /api/publicationidentifier/18441189 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 33570725 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=33570725&dopt=Abstract false true Keyword 1017619 /api/keyword/1017619 true 1017619 true Keyword 1199878 /api/keyword/1199878 true 1199878 true Keyword 2278366 /api/keyword/2278366 true true Keyword 2278367 /api/keyword/2278367 true true SjrRating 11197832 /api/sjrrating/11197832 49 0.49 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 1310 /api/classificationexternal/1310 true 1310 true Q2 DIRECT true true /api/publication/31876052 <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="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" >Blair Jo </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;31876052" target="_blank">Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes</a></div> <div> <span class="journal-title">ENDOCRINE</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1355-008X">1355-008X</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1559-0100">1559-0100</a>)</span>: <span class="journal-volume">71</span> <span class="journal-issue">3</span> <span class="page"> pp 641-652 </span> <span class="year">(2021)</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="10.1007/s12020-021-02636-x" target="_blank" href="https://doi.org/10.1007/s12020-021-02636-x"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000617094900001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000617094900001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85100730061" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85100730061"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="33570725" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=33570725&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Endocrinology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Endocrinology, Diabetes and Metabolism&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: 3 | Függő: 2 | Nem jelölt: 0 | WoS jelölt: 5 | Scopus jelölt:&nbsp;5 | WoS/Scopus jelölt:&nbsp;5 | DOI jelölt:&nbsp;5 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;31876052&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 3 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 31876052</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Összefoglaló cikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (Open access funding of Semmelweis University) </div> <div class="lastModified">Utolsó módosítás: 2024.04.11. 10:24 Wolf György (MTMT Központi admin) </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>: Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary Hereditary Cancers Research Group, Hungarian Academy of Sciences-Semmelweis University, Budapest, Hungary Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary Alder Hey Children’s Hospital—NHS Foundation Trust, Liverpo...</pre> </div></div>