GENE-09. MUTATION SIGNATURE ANALYSIS IN AN ULTRAHYPERMUTATED MEDULLOBLASTOMA PREDICTS UNDERLYING GERMLINE POLYMERASE PROOFREADING DEFICIENCY IN A CHILD WITH CLINICAL FEATURES OF CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

BACKGROUND: Ultrahypermutation (>100 mutations/Mb) is rare in childhood cancer genomes and is primarily seen in patients with constitutional mismatch repair deficiency (cMMRD) caused by biallelic germline mutations in DNA mismatch repair (MMR) genes. We report a child with clinical features of cM...

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Bibliographic Details
Published in:Neuro Oncol
Main Authors: Lindsay, Holly, Scollon, Sarah, Reuther, Jacquelyn, Voicu, Horatiu, Rednam, Surya, Fisher, Kevin, Chintagumpala, Murali, Parsons, D Will, Adesina, Adekunle, Plon, Sharon, Roy, Angshumoy
Format: Artigo
Language:Inglês
Published: Oxford University Press 2019
Subjects:
Genetics/Epigentics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6477419/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/neuonc/noz036.080
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