title: [Novel methods and their applicability in the evaluation of the genetic background of endocrine system tumours].
abstract: The technical developments leading to revolution in clinical genetic testing offer new approaches for patients with cancer. From one mutation or one gene approach the scale of genetic testing moved to whole exome or whole genome scale. It is well known that many tumours are genetically determined and they are part of familial tumour syndromes. In addition, some mutations indicate specific molecular targeted therapies. Although sampling and sample preparation are different for testing germline and somatic mutations, the technical background of the analysis is the same. The aim of clinical genetic testing is to identify patients who are carriers of disease-causing mutations or to test tumour tissue for the presence of genetic alterations which may be targets for therapeutic approaches. In this review the authors summarize novel possibilities offered by next-generation sequencing in clinical genetic testing of patients with endocrine tumours. In addition, the authors review recent guidelines on technical and ethical issues related to these novel methods.
authors.affiliation: "Lendület" Örökletes Endokrin Daganatok Kutatócsoport, Magyar Tudományos Akadémia-Semmelweis Egyetem Budapest.|Bionikai Innovációs Központ Nonprofit Kft. Budapest.|Laboratóriumi Medicina Intézet, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1088.
authors.forename: Attila
authors.initials: A
authors.lastname: Patócs
authors.affiliation: "Lendület" Örökletes Endokrin Daganatok Kutatócsoport, Magyar Tudományos Akadémia-Semmelweis Egyetem Budapest.
authors.forename: István
authors.initials: I
authors.lastname: Likó
authors.affiliation: Molekuláris Medicina Kutatócsoport, Magyar Tudományos Akadémia-Semmelweis Egyetem Budapest.
authors.forename: Henriett
authors.initials: H
authors.lastname: Butz
authors.affiliation: Bionikai Innovációs Központ Nonprofit Kft. Budapest.|I. Patológiai és Kísérleti Rákkutató Intézet, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.
authors.forename: Kornélia
authors.initials: K
authors.lastname: Baghy
authors.affiliation: Bionikai Innovációs Központ Nonprofit Kft. Budapest.|Molekuláris Medicina Kutatócsoport, Magyar Tudományos Akadémia-Semmelweis Egyetem Budapest.
authors.forename: Károly
authors.initials: K
authors.lastname: Rácz
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics; D004273:DNA, Neoplasm / Q000032:analysis*; D004701:Endocrine Gland Neoplasms / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010235:Paraganglioma / Q000235:genetics; D010673:Pheochromocytoma / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000941:ethics / Q000379:methods*
chemical_list: D004273:DNA, Neoplasm
keywords: mutation; mutáció; next-generation sequencing; paraganglioma; phaeochromocytoma; pheochromocytoma; új generációs szekvenálás