Associated Papers
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
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
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 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
Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.
Kiewhuo K et al.
Journal of Biomolecular Structure & Dynamics, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
Liu ZX et al.
Jama Network Open, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 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
BRCA1/ATF1-Mediated Transactivation is Involved in Resistance to PARP Inhibitors and Cisplatin.
Endo S et al.
Cancer Research Communications, 2021
The BRCA1/BARD1 ubiquitin ligase and its substrates.
Witus SR et al.
The Biochemical Journal, 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
The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.
Fan Y et al.
Cancer Biology & Medicine, 2020
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
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 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
Finding driver mutations in cancer: Elucidating the role of background mutational processes.
Brown AL et al.
Plos Computational Biology, 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
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
Starita LM et al.
Genetics, 2015
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
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
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
Towler WI et al.
Human Mutation, 2013
Functional differences among BRCA1 missense mutations in the control of centrosome duplication.
Kais Z et al.
Oncogene, 2012
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
Ransburgh DJ et al.
Cancer Research, 2010
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
Morris JR et al.
Human Molecular Genetics, 2006
Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.
Brzovic PS et al.
Nature Structural Biology, 2001