Please use this identifier to cite or link to this item: http://hdl.handle.net/11452/29946
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dc.contributor.authorAydoğan, Berna İmge-
dc.contributor.authorYüksel, Bağdagül-
dc.contributor.authorTuna, Mazhar Müslüm-
dc.contributor.authorBaşaran, Mehtap Navdar-
dc.contributor.authorErtörer, Melek Eda-
dc.contributor.authorAydın, Kadriye-
dc.contributor.authorGuldiken, Sibel-
dc.contributor.authorŞimşek, Yasin-
dc.contributor.authorKaraca, Züleyha Cihan-
dc.contributor.authorYılmaz, Merve-
dc.contributor.authorAktürk, Mujde-
dc.contributor.authorAnaforoğlu, İnan-
dc.contributor.authorKebapcı, Nur-
dc.contributor.authorDuran, Cevdet-
dc.contributor.authorTaşlıpınar, Abdullah-
dc.contributor.authorKulaksızoğlu, Mustafa-
dc.contributor.authorGursoy, Alptekin-
dc.contributor.authorDağdelen, Selçuk-
dc.contributor.authorErdoğan, Murat Faik-
dc.date.accessioned2022-12-19T07:12:14Z-
dc.date.available2022-12-19T07:12:14Z-
dc.date.issued2015-09-30-
dc.identifier.citationAydoğan, B. İ. vd. (2016). "Distribution of RET mutations and evaluation of treatment approaches in hereditary medullary thyroid carcinoma in Turkey". Journal of Clinical Research in Pediatric Endocrinology, 8(1), Special Issue,13-20.tr_TR
dc.identifier.issn1308-5727-
dc.identifier.issn1308-5735-
dc.identifier.urihttps://doi.org/10.4274/jcrpe.2219-
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805043/-
dc.identifier.urihttp://hdl.handle.net/11452/29946-
dc.description.abstractObjective: This retrospective multicenter study, centrally conducted and supported by the Society of Endocrinology and Metabolism of Turkey, aimed to evaluate the impact of free RET proto-oncogene testing in medullary thyroid carcinoma (MTC) patients. Surgical timing, adequacy of the treatment, and frequency of prophylactic thyroidectomy (PTx) in mutation carriers were also assessed. Methods: Genetic testing for MTC and pheochromocytoma was conducted between July 2008 and January 2012 in 512 patients. Application forms and RET mutation analyses of these patients whose blood samples were sent from various centers around Turkey were assessed retrospectively. An evaluation form was sent to the physicians of the eligible 319 patients who had confirmed sporadic MTC, familial MTC (FMTC), multiple endocrine neoplasia type 2 (MEN2), or who were mutation carriers. Physicians were asked to give information about the surgical history, latest calcitonin levels, morbidity, mortality, genetic screening, and PTx among family members. Twenty-five centers responded by filling in the forms of 192 patients. Results: Among the 319 patients, RET mutation was detected in 71 (22.3%). Cys634Arg mutation was the most prevalent mutation (43.7%), followed by Val804Met in 18 patients (25.4%), and Cys634Tyr in 6 patients (8.5%). Among 192 MTC patients, the diagnosis was sporadic MTC in 146 (76.4%), FMTC in 14 (7.3%), MEN2A in 15 patients (7.9%), and MEN2B in one patient. The number of mutation carriers among 154 apparently sporadic MTC patients was 8 (5.2%). Ten patients were submitted to PTx out of twenty-four mutation carriers at a mean age of 35 +/- 19 years. Conclusion: Turkish people have a similar RET proto-oncogene mutation distribution when compared to other Mediterranean countries. Despite free RET gene testing, the number of the PTx in Turkey is limited and relatively late in the life span of the carriers. This is mainly due to patient and family incompliance and incomplete family counselling.en_US
dc.description.sponsorshipSEMTen_US
dc.language.isoenen_US
dc.publisherGalenos Yayıncılıktr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.rightsAtıf Gayri Ticari Türetilemez 4.0 Uluslararasıtr_TR
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectEndocrinology & metabolismen_US
dc.subjectPediatricsen_US
dc.subjectSporadic medullary thyroid carcinomaen_US
dc.subjectHereditary medullary thyroid carcinomaen_US
dc.subjectMultiple endocrine neoplasiaen_US
dc.subjectRET mutationen_US
dc.subjectEndocrine neoplasia type-2en_US
dc.subjectProtooncogene mutationsen_US
dc.subjectMen 2aen_US
dc.subjectPrevalenceen_US
dc.subjectFamiliesen_US
dc.subjectCanceren_US
dc.subjectGuidelinesen_US
dc.subjectManagementen_US
dc.subjectExperienceen_US
dc.subjectPhenotypeen_US
dc.subject.meshAdulten_US
dc.subject.meshBiomarkersen_US
dc.subject.meshCarcinoma, medullaryen_US
dc.subject.meshDNA mutational analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshFollow-up studiesen_US
dc.subject.meshGenetic predisposition to diseaseen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMultiple endocrine neoplasia type 2aen_US
dc.subject.meshMutationen_US
dc.subject.meshPrognosisen_US
dc.subject.meshProto-oncogene proteins c-reten_US
dc.subject.meshRetrospective studiesen_US
dc.subject.meshThyroid neoplasmsen_US
dc.subject.meshThyroidectomyen_US
dc.subject.meshTurkeyen_US
dc.titleDistribution of RET mutations and evaluation of treatment approaches in hereditary medullary thyroid carcinoma in Turkeyen_US
dc.typeArticleen_US
dc.identifier.wos000378168600002tr_TR
dc.identifier.scopus2-s2.0-84959185956tr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji ve Metabolizma Anabilim Dalı.tr_TR
dc.identifier.startpage13tr_TR
dc.identifier.endpage20tr_TR
dc.identifier.volume8tr_TR
dc.identifier.issue1, Special Issueen_US
dc.relation.journalJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.contributor.buuauthorKocaeli, Ayşen Akkurt-
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationSanayitr_TR
dc.indexed.trdizinTrDizintr_TR
dc.identifier.pubmed26758973tr_TR
dc.subject.wosEndocrinology & metabolismen_US
dc.subject.wosPediatricsen_US
dc.indexed.wosSCIEen_US
dc.indexed.scopusScopusen_US
dc.indexed.pubmedPubMeden_US
dc.wos.quartileQ4 (Endocrinology & metabolism)en_US
dc.wos.quartileQ3 (Pediatrics)en_US
dc.contributor.scopusid57142602300tr_TR
dc.subject.scopusThyroid Medullary Carcinoma; Thyroid Neoplasms; Calcitoninen_US
dc.subject.emtreeCalcitoninen_US
dc.subject.emtreeBiological markeren_US
dc.subject.emtreeProtein reten_US
dc.subject.emtreeRET protein, humanen_US
dc.subject.emtreeSorafeniben_US
dc.subject.emtreeAdolescenten_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeAgar gel electrophoresisen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeChilden_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGenetic screeningen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeLymph node dissectionen_US
dc.subject.emtreeMajor clinical studyen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMetastasisen_US
dc.subject.emtreeMiddle ageden_US
dc.subject.emtreeMorbidityen_US
dc.subject.emtreeMortalityen_US
dc.subject.emtreeMultiple endocrine neoplasia type 2en_US
dc.subject.emtreeOncogene reten_US
dc.subject.emtreeOperation durationen_US
dc.subject.emtreePheochromocytomaen_US
dc.subject.emtreePolymerase chain reactionen_US
dc.subject.emtreeProto oncogeneen_US
dc.subject.emtreeRetrospective studyen_US
dc.subject.emtreeThyroid medullary carcinomaen_US
dc.subject.emtreeThyroidectomyen_US
dc.subject.emtreeTurkey (republic)en_US
dc.subject.emtreeYoung adulten_US
dc.subject.emtreeCarcinoma, medullaryen_US
dc.subject.emtreeClinical trialen_US
dc.subject.emtreeDna mutational analysisen_US
dc.subject.emtreeFollow upen_US
dc.subject.emtreeGenetic predispositionen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeHeterozygoteen_US
dc.subject.emtreeMulticenter studyen_US
dc.subject.emtreeMultiple endocrine neoplasia type 2aen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreePathologyen_US
dc.subject.emtreePrognosisen_US
dc.subject.emtreeThyroid neoplasmsen_US
dc.subject.emtreeTurkeyen_US
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