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
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.
Lerario AM et al.
Clinics (sao Paulo, Brazil), 2020
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
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
OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.
Muller E et al.
Oncotarget, 2016
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L et al.
European Journal of Human Genetics : Ejhg, 2014
A novel crosstalk between BRCA1 and sirtuin 1 in ovarian cancer.
Li D et al.
Scientific Reports, 2014
Glucocorticoid receptor repression mediated by BRCA1 inactivation in ovarian cancer.
Fang YY et al.
Bmc Cancer, 2014
BRCA1 as a nicotinamide adenine dinucleotide (NAD)-dependent metabolic switch in ovarian cancer.
Li D et al.
Cell Cycle (georgetown, Tex.), 2014
Effect of BRCA1 on epidermal growth factor receptor in ovarian cancer.
Li D et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2013
Regulation of angiotensin II type 1 receptor expression in ovarian cancer: a potential role for BRCA1.
Bi FF et al.
Journal of Ovarian Research, 2013