{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T08:30:00Z","timestamp":1648888200532},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p> Abstract: <\/jats:p><jats:p> The common features of hereditary endocrine tumour syndromes or multiple endocrine neoplasias (MEN) are the association of various tumours of different endocrine organs in one patient or within the same family. Different types can be distinguished from among which type 1 and type 2 are the most common. The mode of inheritance is autosomal dominant, meaning that there is a 50% chance to inherit the pathogenic alteration. The pathogenic variants of genes responsible for MEN syndromes have also been identified in sporadic endocrine tumours and many cases initially referred to as sporadic have been later categorized as familiar based on genetic analysis. The main role of the molecular genetic analysis in these syndromes is to identify the pathogenic variant, then, after appropriate genetic counseling, to perform the genetic screening of first-degree relatives. Following molecular genetic analysis, the state-of-the-art clinical follow-up of the clinically healthy mutation carriers may decrease or even prevent the morbidity and mortality. Due to technological developments in recent years, the molecular genetic analysis of hereditary tumour syndromes has also been changed. Using next generation based sequencing methods in routine clinical diagnostics, the number of pathogenic genes in endocrine tumours has also increased. The present review focuses on the genetic background of hereditary endocrine tumour syndromes and the recently used molecular biological methods will also be presented. Orv Hetil. 2018; 159(7): 285\u2013292. <\/jats:p>","DOI":"10.1556\/650.2018.31036","type":"journal-article","created":{"date-parts":[[2018,2,11]],"date-time":"2018-02-11T09:46:51Z","timestamp":1518342411000},"page":"285-292","source":"Crossref","is-referenced-by-count":2,"title":["Molekul\u00e1ris genetikai vizsg\u00e1latok az \u00f6r\u00f6kletes                     endokrinol\u00f3giai tumor szindr\u00f3m\u00e1k klinikai diagnosztik\u00e1j\u00e1ban"],"prefix":"10.1556","volume":"159","author":[{"given":"Bal\u00e1zs","family":"Sarkadi","sequence":"first","affiliation":[{"name":"II. Belgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Szentkir\u00e1lyi u. 46., 1088"},{"name":"\u201eLend\u00fclet\u201d \u00d6r\u00f6kletes Endokrin Daganatok Kutat\u00f3csoport,                         Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vince Korn\u00e9l","family":"Grolmusz","sequence":"additional","affiliation":[{"name":"II. Belgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Szentkir\u00e1lyi u. 46., 1088"},{"name":"\u201eLend\u00fclet\u201d \u00d6r\u00f6kletes Endokrin Daganatok Kutat\u00f3csoport,                         Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henriett","family":"Butz","sequence":"additional","affiliation":[{"name":"Laborat\u00f3riumi Medicina Int\u00e9zet, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"},{"name":"\u201eLend\u00fclet\u201d \u00d6r\u00f6kletes Endokrin Daganatok Kutat\u00f3csoport,                         Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annam\u00e1ria","family":"K\u00f6vesdi","sequence":"additional","affiliation":[{"name":"II. Belgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Szentkir\u00e1lyi u. 46., 1088"},{"name":"\u201eLend\u00fclet\u201d \u00d6r\u00f6kletes Endokrin Daganatok Kutat\u00f3csoport,                         Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Istv\u00e1n","family":"Lik\u00f3","sequence":"additional","affiliation":[{"name":"\u201eLend\u00fclet\u201d \u00d6r\u00f6kletes Endokrin Daganatok Kutat\u00f3csoport,                         Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e1bor","family":"Nyir\u0151","sequence":"additional","affiliation":[{"name":"\u201eLend\u00fclet\u201d \u00d6r\u00f6kletes Endokrin Daganatok Kutat\u00f3csoport,                         Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"},{"name":"Molekul\u00e1ris Medicina Kutat\u00f3csoport, Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter","family":"Igaz","sequence":"additional","affiliation":[{"name":"II. Belgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Szentkir\u00e1lyi u. 46., 1088"},{"name":"Molekul\u00e1ris Medicina Kutat\u00f3csoport, Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Pat\u00f3cs","sequence":"additional","affiliation":[{"name":"II. Belgy\u00f3gy\u00e1szati Klinika, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Szentkir\u00e1lyi u. 46., 1088"},{"name":"Laborat\u00f3riumi Medicina Int\u00e9zet, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"},{"name":"\u201eLend\u00fclet\u201d \u00d6r\u00f6kletes Endokrin Daganatok Kutat\u00f3csoport,                         Magyar Tudom\u00e1nyos Akad\u00e9mia\u2013Semmelweis Egyetem Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","container-title":["Orvosi Hetilap"],"original-title":[],"language":"hu","link":[{"URL":"https:\/\/www.akademiai.com\/doi\/pdf\/10.1556\/650.2018.31036","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T20:05:43Z","timestamp":1550606743000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.akademiai.com\/doi\/10.1556\/650.2018.31036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":0,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1556\/650.2018.31036"],"URL":"https:\/\/doi.org\/10.1556\/650.2018.31036","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2]]}}}