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First report of medulloblastoma in a patient with MUTYH-associated polyposis.

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第一作者： Marie-Charlotte,Villy

第一单位： Department of Genetics, Institut Curie, Paris, France.;Université Paris Cité, Paris, France.

作者： Marie-Charlotte,Villy ^[1] ; Mathilde,Warcoin ^[2] ; Mathilde,Filser ^[3] ; Bruno,Buecher ^[4] ; Lisa,Golmard ^[2] ; Voreak,Suybeng ^[2] ; Mathias,Schwartz ^[2] ; Ivan,Bieche ^[1] ; Sophie,Vacher ^[2] ; Valérie,Laurence ^[5] ; Franck,Bourdeaut ^[6] ; Michèle,Bernier ^[7] ; Tom,Gutman ^[8] ; Dominique,Stoppa-Lyonnet ^[9] ; Julien,Masliah-Planchon ^[2] ; Chrystelle,Colas ^[10]

作者单位： Department of Genetics, Institut Curie, Paris, France.;Université Paris Cité, Paris, France. ^[1] Department of Genetics, Institut Curie, Paris, France.;Paris Sciences & Lettres Research University, Paris, France. ^[2] Department of Genetics, Institut Curie, Paris, France. ^[3] Department of Genetics, Institut Curie, Paris, France.;Paris Sciences & Lettres Research University, Paris, France.;Réseau PRED-IdF, Institut Curie, Paris, France. ^[4] Paris Sciences & Lettres Research University, Paris, France.;Department of Pediatric Oncology, Institut Curie, Paris, France. ^[5] Université Paris Cité, Paris, France.;SIREDO Center Care, Innovation, Research in Pediatric, Adolescent and Young Adult Oncology, Institut Curie, Paris, France. ^[6] Department of Pathology, Hôpital Foch, Suresnes, France. ^[7] Bioinformatics Core Facility, INSERM U900, Mines Paris Tech, Institut Curie, Paris, France. ^[8] Department of Genetics, Institut Curie, Paris, France.;Université Paris Cité, Paris, France.;Inserm U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Paris, France. ^[9] Department of Genetics, Institut Curie, Paris, France.;Paris Sciences & Lettres Research University, Paris, France.;Inserm U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Paris, France. ^[10]

关键词 MUTYH medulloblastoma mutational signature oncogenetics whole exome sequencing

医学主题词人类(Humans);髓母细胞瘤(Medulloblastoma);疾病遗传易感性(Genetic Predisposition to Disease);结肠腺瘤息肉病(Adenomatous Polyposis Coli);突变(Mutation);小脑肿瘤(Cerebellar Neoplasms);结直肠肿瘤(Colorectal Neoplasms)

DOI 10.1111/nan.12929

PMID 37524406

发布时间 2023-09-03

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