Associated Papers
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
BRCA1 transports the DNA damage signal for CDDP-induced centrosome amplification through the centrosomal Aurora A.
Qi H et al.
Cancer Science, 2022
Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
Nepomuceno TC et al.
Scientific Reports, 2022
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer.
Russi M et al.
Pharmacology & Therapeutics, 2022
BRCA1-BARD1 regulates transcription through modulating topoisomerase IIβ.
Bunch H et al.
Open Biology, 2021
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S et al.
International Journal of Molecular Sciences, 2021
PP2Cδ inhibits p300-mediated p53 acetylation via ATM/BRCA1 pathway to impede DNA damage response in breast cancer.
Li Q et al.
Science Advances, 2019
Human Rad52 Promotes XPG-Mediated R-loop Processing to Initiate Transcription-Associated Homologous Recombination Repair.
Yasuhara T et al.
Cell, 2018
Unsolved mystery: the role of BRCA1 in DNA end-joining.
Saha J et al.
Journal of Radiation Research, 2016
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Woods NT et al.
Npj Genomic Medicine, 2016
Mutation of the BRCA1 SQ-cluster results in aberrant mitosis, reduced homologous recombination, and a compensatory increase in non-homologous end joining.
Beckta JM et al.
Oncotarget, 2015
BRCA1 functions as a novel transcriptional cofactor in HIV-1 infection.
Guendel I et al.
Virology Journal, 2015
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
Carvalho RS et al.
Plos One, 2014
Deregulation of BRCA1 leads to impaired spatiotemporal dynamics of γ-H2AX and DNA damage responses in Huntington's disease.
Jeon GS et al.
Molecular Neurobiology, 2012
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
DNA damage-induced cytotoxicity is dissociated from BRCA1's DNA repair function but is dependent on its cytosolic accumulation.
Wang H et al.
Cancer Research, 2010
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.
Caux-Moncoutier V et al.
European Journal of Human Genetics : Ejhg, 2009
Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.
Chang S et al.
The Journal of Clinical Investigation, 2009
Low concentrations of diindolylmethane, a metabolite of indole-3-carbinol, protect against oxidative stress in a BRCA1-dependent manner.
Fan S et al.
Cancer Research, 2009
Ataxia telangiectasia mutated and checkpoint kinase 2 regulate BRCA1 to promote the fidelity of DNA end-joining.
Wang HC et al.
Cancer Research, 2006
BRCA1 phosphorylation regulates caspase-3 activation in UV-induced apoptosis.
Martin SA et al.
Cancer Research, 2005
BRCA1-BARD1 complexes are required for p53Ser-15 phosphorylation and a G1/S arrest following ionizing radiation-induced DNA damage.
Fabbro M et al.
The Journal of Biological Chemistry, 2004