Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1 ‐related hereditary predisposition syndrome?-Reference-Cited by-同舟云学术

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

Published:2019-09-30 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Imbert‐Bouteille Marion¹^ORCID,Gauthier‐Villars Marion²,Leroux Dominique³,Meunier Isabelle⁴,Aerts Isabelle⁵,Lumbroso‐Le Rouic Livia⁶,Lejeune Sophie⁷,Delnatte Capucine⁸,Abadie Caroline⁸,Pujol Pascal¹,Houdayer Claude²⁹,Corsini Carole¹

Affiliation:

1. Medical Genetics Department CHU Montpellier, Univ Montpellier Montpellier France

2. Department of Tumour Biology Institut Curie, University Paris Descartes Paris France

3. Medical Genetics Department CHU Grenoble Grenoble France

4. National Centre for Rare Diseases, Hereditary Retinal and Optic Nerve Disorders CHU Montpellier, Univ Montpellier Montpellier France

5. Department of Pediatric Oncology Institut Curie, University Paris Descartes Paris France

6. Department of Ocular Oncology Institut Curie Paris France

7. Medical Genetics Department CHRU Lille Lille France

8. Oncogenetics Institut de Cancérologie de l'Ouest site René Gauducheau Saint Herblain France

9. Genetics Department, F76000 and Normandy Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine Rouen University Hospital Rouen France

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.913

Reference26 articles.

1. Outcome of second malignancies after retinoblastoma: a retrospective analysis of 25 patients treated at the Institut Curie

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5. Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas

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