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
Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
Nurmi AK et al.
Cancers, 2022
Identification of the c.829_832delAATA Deletion Variants in the BRCA1 Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.
Ostrowska M et al.
Journal of Genomics, 2022
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
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA et al.
American Journal of Medical Genetics. Part A, 2021
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
Nurmi A et al.
International Journal of Cancer, 2019
Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
Machackova E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Du C et al.
Breast Cancer Research and Treatment, 2018
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
Seo A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
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