Cancer in children with biallelic <i>BRCA1</i> variants and Fanconi anemia‐like features: Report of a malignant brain tumor in a young child-Reference-Cited by-同舟云学术

Cancer in children with biallelic BRCA1 variants and Fanconi anemia‐like features: Report of a malignant brain tumor in a young child

Published:2022-04-04 Issue:10 Volume:69 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Borlin Petra R.¹^ORCID,Brazzola Pierluigi²,Frontzek Karl³,Zanoni Paolo⁴,Morscher Raphael J.¹^ORCID,Hench Jurgen⁵,Frank Stephan⁵,Kottke Raimund⁶^ORCID,Rushing Elisabeth J.³,Goeggel Simonetti Barbara²⁷⁸,Steindl Katharina⁴,Guerreiro Stucklin Ana S.¹^ORCID

Affiliation:

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

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.29680

Reference13 articles.

1. Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

2. Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

3. A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

4. Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer

5. Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

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1. Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management;Cancer Medicine;2024-08

2. Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant;Breast Cancer Research;2024-01-09

3. The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations;Frontiers in Oncology;2023-12-11