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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2019-12-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	cancer screening low penetrance Osteosarcoma RB1 Sarcoma whole‐body MRI
Acesso em linha:	https://doi.org/10.1002/mgg3.913
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!