Associated Papers
Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location.
Young CC et al.
Frontiers in Oncology, 2025
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Block I et al.
Breast Cancer Research : Bcr, 2024
The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations.
Hughes T et al.
Frontiers in Oncology, 2023
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.
Chirita-Emandi A et al.
Journal of Medical Genetics, 2021
A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient.
Kwong A et al.
International Journal of Molecular Sciences, 2021
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
Nurmi A et al.
International Journal of Cancer, 2019
30927251 (PubMed )
Supplement: IJC-145-2692-s001.pdf
Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.
Keupp K et al.
Molecular Genetics & Genomic Medicine, 2019
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Freire BL et al.
European Journal of Medical Genetics, 2018
BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report.
Bondavalli D et al.
Oncology Letters, 2018
When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.
Wong-Brown M et al.
Hereditary Cancer in Clinical Practice, 2016
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
Sawyer SL et al.
Cancer Discovery, 2015
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