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

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.

Petra R Borlin et al. Pediatr Blood Cancer. 2022 Oct.

. 2022 Oct;69(10):e29680.

doi: 10.1002/pbc.29680. Epub 2022 Apr 4.

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.

No abstract available

References

1. Gowen LC, Johnson BL, Latour AM, Sulik KK, Koller BH. Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nat Genet. 1996;12(2):191-194.
1. Seo A, Steinberg-Shemer O, Unal S, et al. Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. Proc Natl Acad Sci U S A. 2018;115(20):5241-5246.
1. Kwong A, Ho CYS, Shin VY, Au CH, Chan TL, Ma ESK. A case report of germline compound heterozygous mutations in the BRCA1 gene of an ovarian and breast cancer patient. Int J Mol Sci. 2021;22(2):889.
1. Domchek SM, Tang J, Stopfer J, et al. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. Cancer Discov. 2013;3(4):399-405.
1. Sawyer SL, Tian L, Kähkönen M, et al. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer Discov. 2015;5(2):135-142.