Germline
Brain Neoplasms
/ genetics
Cerebellar Neoplasms
Child, Preschool
Colorectal Neoplasms
/ genetics
DNA Mismatch Repair
/ genetics
DNA Mutational Analysis
DNA Polymerase II
/ genetics
DNA-Binding Proteins
/ genetics
Female
Genetic Predisposition to Disease
Genetic Testing
Germ Cells
/ metabolism
Germ-Line Mutation
/ genetics
Humans
Medulloblastoma
/ genetics
Mutation
Neoplastic Syndromes, Hereditary
/ genetics
Phenotype
Poly-ADP-Ribose Binding Proteins
/ genetics
cerebellar medulloblastoma
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
14
06
2019
accepted:
15
08
2019
pubmed:
19
10
2019
medline:
21
7
2020
entrez:
19
10
2019
Statut:
epublish
Résumé
Ultra-hypermutation (>100 mutations/Mb) is rare in childhood cancer genomes and has been primarily reported in patients with constitutional mismatch repair deficiency (CMMRD) caused by biallelic germline mismatch repair (MMR) gene mutations. We report a 5-yr-old child with classic clinical features of CMMRD and an ultra-hypermutated medulloblastoma with retained MMR protein expression and absence of germline MMR mutations. Mutational signature analysis of tumor panel sequencing data revealed a canonical DNA polymerase-deficiency-associated signature, prompting further genetic testing that uncovered a germline
Identifiants
pubmed: 31624068
pii: mcs.a004499
doi: 10.1101/mcs.a004499
pmc: PMC6824253
pii:
doi:
Substances chimiques
DNA-Binding Proteins
0
Poly-ADP-Ribose Binding Proteins
0
DNA Polymerase II
EC 2.7.7.7
POLE protein, human
EC 2.7.7.7
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2019 Lindsay et al.; Published by Cold Spring Harbor Laboratory Press.
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