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Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Frank-Raue, Karin and Rybicki, Lisa A. and Erlic, Zoran and Schweizer, Heiko and Winter, Aurelia and Milos, Ioana and Toledo, Sergio P. A. and Toledo Rodrigo, A. and Tavares Marcos, R. and Alevizaki, Maria and Mian, Caterina and Siggelkow, Heide and Hüfner, Michael and Wohllk, Nelson and Opocher, Giuseppe and Dvo áková, Sárka and Bendlova, Bela and Czetwertynska, Ma gorzata and Skasko, El bieta and Barontini, Marta and Sanso, Gabriela and Vorländer, Christian and Maia, Ana Luiza and Patocs, Attila and Links Thera, P. and de Groot, Jan Willem and Kerstens Michiel, N. and Valk Gerlof, D. and Miehle, Konstanze and Musholt, Thomas J. and Biarnes, Josefina and Damjanovic, Svetozar and Muresan, Mihaela and Wüster, Christian and Fassnacht, Martin and Peczkowska, Mariola and Fauth, Christine and Golcher, Henriette and Walter, Martin A. and Pichl, Josef and Raue, Friedhelm and Eng, Charis and Neumann, Hartmut P. H.. (2011) Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Human mutation, Vol. 32, H. 1. pp. 51-58.

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Official URL: http://edoc.unibas.ch/dok/A6004623

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Abstract

Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 centers from 15 countries, analyzed patients with RET exon 10 mutations for clinical-risk profiles. Presentation, age-dependent penetrance, and stage at presentation of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism were studied. A total of 340 subjects from 103 families, age 4-86, were registered. There were 21 distinct single nucleotide germline mutations located in codons 609 (45 subjects), 611 (50), 618 (94), and 620 (151). MTC was present in 263 registrants, pheochromocytoma in 54, and hyperparathyroidism in 8 subjects. Of the patients with MTC, 53% were detected when asymptomatic, and among those with pheochromocytoma, 54%. Penetrance for MTC was 4% by age 10, 25% by 25, and 80% by 50. Codon-associated penetrance by age 50 ranged from 60% (codon 611) to 86% (620). More advanced stage and increasing risk of metastases correlated with mutation in codon position (609 620) near the juxtamembrane domain. Our data provide rigorous bases for timing of premorbid diagnosis and personalized treatment/prophylactic procedure decisions depending on specific RET exon 10 codons affected.
Faculties and Departments:03 Faculty of Medicine > Bereich Querschnittsfächer (Klinik) > Radiologie USB > Nuklearmedizin (Wild)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Querschnittsfächer (Klinik) > Radiologie USB > Nuklearmedizin (Wild)
UniBasel Contributors:Walter, Martin
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Wiley-Liss
ISSN:1098-1004
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:27 Mar 2014 13:13
Deposited On:27 Mar 2014 13:13

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