Associated Papers
Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.
Mateu-Regué À et al.
Scientific Reports, 2026
HSP90 buffers deleterious genetic variations in BRCA1.
Gracia B et al.
Molecular Cell, 2025
Triple-Action Therapy: Combining Machine Learning, Docking, and Dynamics to Combat BRCA1-Mutated Breast Cancer.
Zainulabidin AA et al.
Molecular Biotechnology, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.
Reiner AS et al.
Jama Network Open, 2024
Phase II Trial of the PARP Inhibitor, Niraparib, in BAP1 and Other DNA Damage Response Pathway-Deficient Neoplasms.
George TJ et al.
Jco Precision Oncology, 2024
BRCA1-Mediated Dual Regulation of Ferroptosis Exposes a Vulnerability to GPX4 and PARP Co-Inhibition in BRCA1-Deficient Cancers.
Lei G et al.
Cancer Discovery, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Inter-BRCT linker is probably the most intolerant region of the BRCA1 BRCT domain.
Yadegari F et al.
Journal of Biomolecular Structure & Dynamics, 2024
Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.
Sierra-Díaz DC et al.
Human Genomics, 2024
Assessment of BRCA1 and BRCA2 Germline Variant Data From Patients With Breast Cancer in a Real-World Data Registry.
Nepomuceno TC et al.
Jco Clinical Cancer Informatics, 2024
The importance of protein domain mutations in cancer therapy.
Chitluri KK et al.
Heliyon, 2024
BRCA1 and Its Vulnerable C-Terminal BRCT Domain: Structure, Function, Genetic Mutations and Links to Diagnosis and Treatment of Breast and Ovarian Cancer.
Ismail T et al.
Pharmaceuticals (basel, Switzerland), 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
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
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
The BRCA1/BARD1 complex recognizes pre-ribosomal RNA to facilitate homologous recombination.
Wu D et al.
Cell Discovery, 2023
Protein-Folding Chaperones Predict Structure-Function Relationships and Cancer Risk in BRCA1 Mutation Carriers.
Gracia B et al.
Biorxiv : the Preprint Server for Biology, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
A global perspective on the ethnic-specific BRCA variation and its implication in clinical application.
Wang SM
Journal of the National Cancer Center, 2023
Regulation of DNA damage response by trimeric G-proteins.
Abd El-Hafeez AA et al.
Iscience, 2023
Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.
Yanus GA et al.
Familial Cancer, 2023
Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures.
Li C et al.
Theranostics, 2023
Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays.
Caleca L et al.
Frontiers in Oncology, 2023
BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Wei CH et al.
Plos One, 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
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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Correction to: In-Silico analyses of Nonsynonymous Variants in the BRCA1 Gene.
Arshad S et al.
Biochemical Genetics, 2022
Targeted Mutational Analysis of Circulating Tumor DNA to Decipher Temporal Heterogeneity of High-Grade Serous Ovarian Cancer.
Paracchini L et al.
Cancers, 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