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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2019
Konular:
Original Articles
Online Erişim: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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