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

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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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cancer screening
low penetrance
Osteosarcoma
RB1
Sarcoma
whole‐body MRI
Online Access:https://doi.org/10.1002/mgg3.913

Internet

https://doi.org/10.1002/mgg3.913

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