Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

Abstract Background Retinoblastoma (Rb) is a rare intraocular malignant tumor in children with high overall survival. Predisposition to Rb is linked to RB1 germline mutations with high penetrance, but rare RB1 low‐penetrance variants are also known. Rb survivors are at risk of second primary maligna...

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Bibliografische Detailangaben

Hauptverfasser:	Marion Imbert‐Bouteille, Marion Gauthier‐Villars, Dominique Leroux, Isabelle Meunier, Isabelle Aerts, Livia Lumbroso‐Le Rouic, Sophie Lejeune, Capucine Delnatte, Caroline Abadie, Pascal Pujol, Claude Houdayer, Carole Corsini
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2019-12-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Schlagworte:	cancer screening low penetrance Osteosarcoma RB1 Sarcoma whole‐body MRI
Online-Zugang:	https://doi.org/10.1002/mgg3.913
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