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Document type:
Article; Journal Article 
Author(s):
Kovac, Michal; Woolley, Connor; Ribi, Sebastian; Blattmann, Claudia; Roth, Eva; Morini, Marco; Kovacova, Monika; Ameline, Baptiste; Kulozik, Andreas; Bielack, Stefan; Hartmann, Wolfgang; Ballinger, Mandy L; Thomas, David M; Tomlinson, Ian; Nathrath, Michaela; Heinimann, Karl; Baumhoer, Daniel 
Title:
Germline RET variants underlie a subset of paediatric osteosarcoma. 
Abstract:
BACKGROUND: Although considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone. METHODS AND RESULTS: We followed here a coincidental finding in a multiple endocrine neoplasia family in which a 32-year-old patient carrying a germline pathogenic RET mutation developed an osteosarcoma 2 years after the resection of a medullary thyroid carcinoma. Sequencing analysis of additional 336 pa...    »
 
Journal title abbreviation:
J Med Genet 
Year:
2021 
Journal volume:
58 
Journal issue:
Pages contribution:
20-24 
Print-ISSN:
0022-2593 
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin