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Article

Germline RET variants underlie a subset of paediatric osteosarcoma.

Journal of medical genetics - 1 Jan 2021

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

Abstract excerpt

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...

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Identifiers

PMID: 32179705
DOI: 10.1136/jmedgenet-2019-106734

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