{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:48:06Z","timestamp":1790236086290,"version":"4.1.0"},"reference-count":68,"publisher":"Centre for Evaluation in Education and Science (CEON\/CEES)","issue":"1","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,3,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n<jats:p><jats:bold>Background:<\/jats:bold> Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome characterized by the occurrence of primary hyperparathyroidism (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumor (pNET). Whether the underlying mutations in <jats:italic>MEN1<\/jats:italic> gene predict clinical presentation of affected heterozygotes or not, is still a matter of a debate.<\/jats:p>\n<jats:p><jats:bold>Methods:<\/jats:bold> Clinical and genetic analysis of 90 consecutive MEN1 patients was performed in a retrospective, single \u2013 center study.<\/jats:p>\n<jats:p><jats:bold>Results:<\/jats:bold> <jats:italic>MEN1<\/jats:italic> mutation was found in 67 (74.4%) patients belonging to 31 different families. Twenty nine different heteozygous mutations were found, including 6 novel point mutations (W220G, 941delG, 1088del7, 1184insA, 1473del10, 1602del17) and one large deletion of exon 8. Truncating mutations predicted development of pNETs (OR=5.8, 95% CI 1.7 \u2013 19.7%) and PHPT (OR=4.3, 95% CI 1.5 \u2013 12.4%).<\/jats:p>\n<jats:p><jats:bold>Conclusions:<\/jats:bold> Large number of novel mutations among MEN1 patients confirmed previously reported data. PNETs and PHPT were more frequent in patients with truncating mutations.<\/jats:p>","DOI":"10.2478\/jomb-2018-0013","type":"journal-article","created":{"date-parts":[[2018,5,4]],"date-time":"2018-05-04T22:16:31Z","timestamp":1525472191000},"page":"38-44","source":"Crossref","is-referenced-by-count":5,"title":["Novel Mutations in Serbian MEN1 Patients: Genotype-Phenotype Correlation"],"prefix":"10.5937","volume":"38","author":[{"given":"Tatjana","family":"Isailovic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Milicevic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djuro","family":"Macut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Petakov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanja","family":"Ognjanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bojana","family":"Popovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana Bozic","family":"Antic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Bogavac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina Elezovic","family":"Kovacevic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dusan","family":"Ilic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetozar","family":"Damjanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3964","reference":[{"key":"ref191","first-page":"1","article-title":"Multiple endocrine neoplasia syndrome type institution management and data analysis of a nationwide multicenter patient database","volume":"20","author":"Giusti","year":"2017","journal-title":"Endocrine"},{"key":"ref721","first-page":"73","article-title":"Starker Frequent germ - line mutations of the MEN CDC genes in young patients with clinically non - familial primary hyperparathyroidism Hormones","volume":"3","author":"Akerstrom","year":"2012","journal-title":"Cancer"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1086\/301729","article-title":"Characterization of mutations in patients with multiple endocrine neoplasia type","author":"Bassett","year":"1998","journal-title":"Am J Hum Genet"},{"key":"ref781","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V","article-title":"Common ancestral mutation in the MEN gene is likely responsible for the prolactinoma variant of MEN MEN in four kindreds from Newfoundland","volume":"11","author":"Olufemi","year":"1998","journal-title":"Hum Mutat"},{"key":"ref331","first-page":"1","article-title":"dontis Novel germline mutations of the MEN gene in Greek families with multiple endocrine neo plasia type","author":"Peppa","year":"2009","journal-title":"Clinical Endocrinology"},{"key":"ref301","first-page":"1","article-title":"MEN in pancreatic endocrine tumors : analysis of gene and protein status in sporadic neoplasms reveals alterations in the vast majority of cases","volume":"31","author":"Corbo","year":"2010","journal-title":"Endocr Relat Cancer"},{"key":"ref281","first-page":"1","article-title":"Four novel frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer","volume":"29","author":"Caluseriu","year":"2001","journal-title":"Human Mutation"},{"key":"ref621","first-page":"1","article-title":"Multiple type clinical genetic topics of","volume":"22","author":"Marx","year":"1998","journal-title":"endocrine neoplasia Annals Internal Medicine"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1365-2265.2005.02190.x","article-title":"AT CM Detection of an MEN gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing","volume":"24","author":"Ellard","year":"2005","journal-title":"Clinical Endocrinology"},{"key":"ref441","first-page":"1","article-title":"Chandrasekharappa Positional cloning of the gene for multiple endocrine neoplasia - 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positive and mutation - negative patients","volume":"11","author":"Laat","year":"2016","journal-title":"BMC Medicine"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1210\/jc.2010-1692","article-title":"Diagnosis and treatment of hyperprolactinemia an clinical practice guideline","volume":"13","author":"Melmed","year":"2011","journal-title":"Endocrine Society J Clin Endocrinol Metab"},{"key":"ref251","first-page":"1","article-title":"Rare germline mutations in cyclin - dependent kinase inhibitor genes in multiple endocrine neoplasia type and related states","volume":"26","author":"Agarwal","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref401","first-page":"1","article-title":"carcinoid in multiple endocrine geno type phenotype correlation and prevention of","author":"Lim","year":"2006","journal-title":"Eng neoplasia Journal Internal Medicine"},{"key":"ref681","article-title":"in families evidence for modifier genes and implications for screening","volume":"28","author":"Smith","year":"2007","journal-title":"J Med Genet"},{"key":"ref771","first-page":"37","article-title":"Multiple endocrine neoplasia type in Northern Finland clinical features and genotype phenotype correlation of","author":"Vierimaa","year":"2007","journal-title":"European Journal Endocrinology"},{"key":"ref711","first-page":"1","article-title":"MEN in pancreatic endocrine tumors : analysis of gene and protein status in sporadic neoplasms reveals alterations in the vast majority of cases","volume":"31","author":"Corbo","year":"2010","journal-title":"Endocr Relat Cancer"},{"key":"ref741","first-page":"1","article-title":"dontis Novel germline mutations of the MEN gene in Greek families with multiple endocrine neo plasia type","author":"Peppa","year":"2009","journal-title":"Clinical Endocrinology"},{"key":"ref21","first-page":"142","article-title":"MEN gene mutation analysis in Italian patients with multiple endocrine neoplasia type","author":"Morelli","year":"2000","journal-title":"Eur J Endocrinol"},{"key":"ref201","first-page":"1","article-title":"Hai Clinical features of multiple endocrine neoplasia type MEN phenocopy without germline MEN gene mutations : analysis of Japanese sporadic cases with MEN","volume":"21","author":"Aoki","year":"2000","journal-title":"Clinical Endocrinology"},{"key":"ref01","first-page":"386","article-title":"Multiple type MEN type MEN","author":"Thakker","year":"2014","journal-title":"endocrine neoplasia Mol Cell Endocrinol"},{"key":"ref111","first-page":"1","article-title":"practice guidelines for multiple endocrine neoplasia type MEN","volume":"12","author":"Thakker","year":"2012","journal-title":"Clinical J Clin Endocrinol Metab"},{"key":"ref381","first-page":"39","article-title":"Multiple endocrine neoplasia type variant with frequent prolactinoma and rare gastrinoma","author":"Hao","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"ref731","first-page":"1","article-title":"MEN gene mutations in Hungarian patients with multiple endocrine neoplasia type","volume":"33","author":"Balogh","year":"2007","journal-title":"Clinical Endocrinology"},{"key":"ref51","first-page":"1","article-title":"of Multiple Type Syndrome What New What Old Research","author":"Falchetti","year":"2017","journal-title":"Genetics Endocrine Neoplasia"},{"key":"ref131","first-page":"355","article-title":"Medical progress","volume":"14","author":"Melmed","year":"2006","journal-title":"Engl J Med"},{"key":"ref391","first-page":"1","article-title":"Higher Risk of Aggressive Pancreatic Neuroendocrine Tumors in MEN Patients With MEN Mutations Affecting the CHES Interacting MENIN Domain The of","volume":"11","author":"Bartsch","year":"2014","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V","article-title":"Common ancestral mutation in the MEN gene is likely responsible for the prolactinoma variant of MEN MEN in four kindreds from Newfoundland","volume":"11","author":"Olufemi","year":"1998","journal-title":"Hum Mutat"},{"key":"ref811","first-page":"1","article-title":"carcinoid in multiple endocrine geno type phenotype correlation and prevention of","author":"Lim","year":"2006","journal-title":"Eng neoplasia Journal Internal Medicine"},{"key":"ref271","article-title":"in families evidence for modifier genes and implications for screening","volume":"28","author":"Smith","year":"2007","journal-title":"J Med Genet"},{"key":"ref581","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1515\/jomb-2017-0032","article-title":"medicine is faced with the evolution of medical practice","volume":"18","author":"Collinson","year":"2017","journal-title":"Laboratory J Med Biochem"},{"key":"ref31","first-page":"1","article-title":"Chandrasekharappa Positional cloning of the gene for multiple endocrine neoplasia - type","author":"Guru","year":"1997","journal-title":"Science"},{"key":"ref41","first-page":"1","article-title":"represses tumorigenesis via repressing cell proliferation of","author":"Wu","year":"2011","journal-title":"American Journal Cancer Research"},{"key":"ref151","first-page":"175","article-title":"Management of adrenal incidentalomas of Practice Guideline in collaboration with the European Network for the Study of Adrenal Tumors","volume":"16","author":"Fassnacht","year":"2016","journal-title":"European Society Endocrinology Clinical Eur J Endocrinol"},{"key":"ref451","first-page":"1","article-title":"represses tumorigenesis via repressing cell proliferation of","author":"Wu","year":"2011","journal-title":"American Journal Cancer Research"},{"key":"ref431","first-page":"142","article-title":"MEN gene mutation analysis in Italian patients with multiple endocrine neoplasia type","author":"Morelli","year":"2000","journal-title":"Eur J Endocrinol"},{"key":"ref261","first-page":"1","article-title":"CA MEN mutations the latest of the MEN syndromes","volume":"27","author":"Alrezk","year":"2017","journal-title":"Endocr Relat Cancer"},{"key":"ref461","first-page":"1","article-title":"of Multiple Type Syndrome What New What Old Research","author":"Falchetti","year":"2017","journal-title":"Genetics Endocrine Neoplasia"},{"key":"ref651","first-page":"1","article-title":"Beckers The treatment of sporadic versus MEN related pituitary adenomas","volume":"25","author":"Betea","year":"2003","journal-title":"J Intern Med"},{"key":"ref61","first-page":"1","article-title":"carcinoid in multiple endocrine genotype - phenotype correlation and prevention","author":"Lim","year":"2006","journal-title":"Eng neoplasia J Intern Med"},{"key":"ref751","first-page":"35","article-title":"Mutational analysis in patients with nonsyndromic MEN Pre sented at European Congress of Budapest Abstracts","volume":"14","author":"Mirkovic","year":"2007","journal-title":"Endocrinology Endocrine"},{"key":"ref701","first-page":"1","article-title":"Multiple endocrine neoplasia type MEN analysis of mutations reported in the first decade following identification of the gene","volume":"30","author":"Lemos","year":"2008","journal-title":"Hum Mutat"},{"key":"ref671","first-page":"1","article-title":"CA MEN mutations the latest of the MEN syndromes","volume":"27","author":"Alrezk","year":"2017","journal-title":"Endocr Relat Cancer"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1210\/jc.2010-1692","article-title":"Diagnosis and treatment of hyperprolactinemia an clinical practice guideline","volume":"13","author":"Melmed","year":"2011","journal-title":"Endocrine Society J Clin Endocrinol Metab"},{"key":"ref361","first-page":"37","article-title":"Multiple endocrine neoplasia type in Northern Finland clinical features and genotype phenotype correlation of","author":"Vierimaa","year":"2007","journal-title":"European Journal Endocrinology"},{"key":"ref611","first-page":"1","article-title":"Hai Clinical features of multiple endocrine neoplasia type MEN phenocopy without germline MEN gene mutations : analysis of Japanese sporadic cases with MEN","volume":"21","author":"Aoki","year":"2000","journal-title":"Clinical Endocrinology"}],"container-title":["Journal of Medical Biochemistry"],"original-title":[],"link":[{"URL":"https:\/\/content.sciendo.com\/view\/journals\/jomb\/38\/1\/article-p38.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/scindeks-clanci.ceon.rs\/data\/pdf\/1452-8258\/2019\/1452-82581901038I.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,7]],"date-time":"2020-05-07T20:35:09Z","timestamp":1588883709000},"score":1,"resource":{"primary":{"URL":"https:\/\/scindeks.ceon.rs\/article.aspx?artid=1452-82581901038I"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,1]]},"references-count":68,"aliases":["10.1515\/jomb-2018-0013"],"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.2478\/jomb-2018-0013","relation":{},"ISSN":["1452-8266"],"issn-type":[{"value":"1452-8266","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,1]]}}}