Associated Papers
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.
Ramadane-Morchadi L et al.
American Journal of Human Genetics, 2025
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 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
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
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.
Bellè F et al.
International Journal of Molecular Sciences, 2022
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.
Arshad S et al.
Biochemical Genetics, 2021
BRCA1/ATF1-Mediated Transactivation is Involved in Resistance to PARP Inhibitors and Cisplatin.
Endo S et al.
Cancer Research Communications, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 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
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Functional analysis of BRCA1 RING domain variants: computationally derived structural data can improve upon experimental features for training predictive models.
Masso M
Integrative Biology : Quantitative Biosciences From Nano to Macro, 2020
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.
Li K et al.
Frontiers in Genetics, 2020
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.
Caleca L et al.
Cancers, 2019
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.
Watanabe G et al.
Cancer Science, 2018
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
Thouvenot P et al.
Plos Genetics, 2016