Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child
Pediatr Blood Cancer
.
2022 Oct;69(10):e29680.
doi: 10.1002/pbc.29680.
Epub 2022 Apr 4.
Authors
Petra R Borlin
1
,
Pierluigi Brazzola
2
,
Karl Frontzek
3
,
Paolo Zanoni
4
,
Raphael J Morscher
1
,
Jurgen Hench
5
,
Stephan Frank
5
,
Raimund Kottke
6
,
Elisabeth J Rushing
3
,
Barbara Goeggel Simonetti
2
7
8
,
Katharina Steindl
4
,
Ana S Guerreiro Stucklin
1
Affiliations
1
Department of Oncology and Children's Research Center, University Children's Hospital of Zurich, Zurich, Switzerland.
2
Clinic of Pediatrics, Pediatric Institute of Southern Switzerland, EOC, Bellinzona, Switzerland.
3
Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland.
4
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
5
Department of Neuropathology, Institute of Pathology, Basel University Hospital, Basel, Switzerland.
6
Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich, Switzerland.
7
Department of Neurology, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland.
8
Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland.
PMID:
35373906
DOI:
10.1002/pbc.29680
No abstract available
Publication types
Letter
MeSH terms
BRCA1 Protein / genetics
Brain Neoplasms* / genetics
Child
Fanconi Anemia* / complications
Fanconi Anemia* / genetics
Genetic Predisposition to Disease
Humans
Mutation
Substances
BRCA1 Protein
BRCA1 protein, human