Associated Papers
Revisiting the impact of BRCA1 pathogenic variants on the aggressiveness of prostate cancer.
Sasagawa H et al.
Jnci Cancer Spectrum, 2026
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 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.
Nacer DF et al.
Genome Medicine, 2023
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Hovland HN et al.
Genes, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 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
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 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
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
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
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Woods NT et al.
Npj Genomic Medicine, 2016
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
Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis.
Moynahan ME et al.
Nature Reviews. Molecular Cell Biology, 2010
BRCA1 and its toolbox for the maintenance of genome integrity.
Huen MS et al.
Nature Reviews. Molecular Cell Biology, 2010
PALB2 is an integral component of the BRCA complex required for homologous recombination repair.
Sy SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathway.
Chen JJ et al.
Cancer Research, 1999
BRCA gene structure and function in tumor suppression: a repair-centric perspective.
Murphy CG et al.
Cancer Journal (sudbury, Mass.), 0