Associated Papers
Defective BRCA1-mediated DNA end resection drives tandem duplication formation and FANCM synthetic lethality.
Nilavar NM et al.
Biorxiv : the Preprint Server for Biology, 2026
An Inducible BRCA1 Expression System with In Vivo Applicability Uncovers Activity of the Combination of ATR and PARP Inhibitors to Overcome Therapy Resistance.
Irving E et al.
Cancers, 2026
PALB2 and 53BP1 govern post-resection homologous recombination DNA repair.
Wang Y et al.
Molecular Cell, 2025
BRCA1 and BRCA2: from cancer susceptibility to synthetic lethality.
Khalizieva A et al.
Genes & Development, 2025
Proline variants in the BRCA1 coiled-coil domain disrupt folding and binding to PALB2.
Baker CNS et al.
Protein Science : a Publication of the Protein Society, 2025
Brca1 Mouse Models: Functional Insights and Therapeutic Opportunities.
Yueh WT et al.
Journal of Molecular Biology, 2024
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains.
Nagy G et al.
Plos One, 2023
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
BRCA1-Dependent and Independent Recruitment of PALB2-BRCA2-RAD51 in the DNA Damage Response and Cancer.
Foo TK et al.
Cancer Research, 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
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
A BRCA1 Coiled-Coil Domain Variant Disrupting PALB2 Interaction Promotes the Development of Mammary Tumors and Confers a Targetable Defect in Homologous Recombination Repair.
Pulver EM et al.
Cancer Research, 2021
Coiled-Coil Domain: Uncoiling Tumor Suppression by BRCA1.
Mishra AP et al.
Cancer Research, 2021
ATR/ATM-Mediated Phosphorylation of BRCA1 T1394 Promotes Homologous Recombinational Repair and G2-M Checkpoint Maintenance.
Foo TK et al.
Cancer Research, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Ablation of the Brca1-Palb2 Interaction Phenocopies Fanconi Anemia in Mice.
Park D et al.
Cancer Research, 2020
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.
Bouwman P et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
BRCA1 Mutational Complementation Induces Synthetic Viability.
Nacson J et al.
Molecular Cell, 2020
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Brca1 mutations in the coiled-coil domain impede Rad51 loading on DNA and mouse development.
Krais JJ et al.
Molecular & Cellular Oncology, 2020
Dual Mechanisms of LYN Kinase Dysregulation Drive Aggressive Behavior in Breast Cancer Cells.
Tornillo G et al.
Cell Reports, 2018
BRCA1 Mutation-Specific Responses to 53BP1 Loss-Induced Homologous Recombination and PARP Inhibitor Resistance.
Nacson J et al.
Cell Reports, 2018
Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
Caleca L et al.
Frontiers in Oncology, 2018
Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance.
Anantha RW et al.
Elife, 2017
The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin.
Wang Y et al.
Cancer 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
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
Whiley PJ et al.
Plos One, 2014
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
Carvalho RS et al.
Plos One, 2014
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
Bouwman P et al.
Cancer Discovery, 2013
Structure-Function Of The Tumor Suppressor BRCA1.
Clark SL et al.
Computational and Structural Biotechnology Journal, 2012
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
Iversen ES et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2011