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

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 malignancies (S...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Imbert‐Bouteille, Marion, Gauthier‐Villars, Marion, Leroux, Dominique, Meunier, Isabelle, Aerts, Isabelle, Lumbroso‐Le Rouic, Livia, Lejeune, Sophie, Delnatte, Capucine, Abadie, Caroline, Pujol, Pascal, Houdayer, Claude, Corsini, Carole
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2019
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900371/
https://ncbi.nlm.nih.gov/pubmed/31568710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.913
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