Associated Papers
Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.
So MK et al.
Diagnostics (basel, Switzerland), 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
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 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
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
Modulation of interaction of BRCA1-RAD51 and BRCA1-AURKA protein complexes by natural metabolites using as possible therapeutic intervention toward cardiotoxic effects of cancer drugs: an in-silico approach.
Tiwari S et al.
Journal of Biomolecular Structure & Dynamics, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
Solano AR et al.
Cancers, 2021
Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer.
Wan Q et al.
Familial Cancer, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
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
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
Petitalot A et al.
Molecular Cancer Research : Mcr, 2019
Corrigendum to 'specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation' [International Journal of Biochemistry and Cell Biology (2007) 220-226].
Crugliano T et al.
The International Journal of Biochemistry & Cell Biology, 2017
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
Ryu JM et al.
Breast (edinburgh, Scotland), 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
Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.
Gaboriau DC et al.
The Biochemical Journal, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
Carvalho RS et al.
Plos One, 2014
BRCA1 16 years later: risk-associated BRCA1 mutations and their functional implications.
Linger RJ et al.
The Febs Journal, 2010
Toward classification of BRCA1 missense variants using a biophysical approach.
Rowling PJ et al.
The Journal of Biological Chemistry, 2010
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
Lee MS et al.
Cancer Research, 2010
Rad4TopBP1 associates with Srr2, an Spc1 MAPK-regulated protein, in response to environmental stress.
Taricani L et al.
The Journal of Biological Chemistry, 2007
Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.
Crugliano T et al.
The International Journal of Biochemistry & Cell Biology, 2007
Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo.
Quaresima B et al.
Oncology Reports, 2006
In vitro analysis of genomic instability triggered by BRCA1 missense mutations.
Quaresima B et al.
Human Mutation, 2006
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Judkins T et al.
Cancer Research, 2005
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Abkevich V et al.
Journal of Medical Genetics, 2004
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.
Mirkovic N et al.
Cancer Research, 2004
The BRCA1 C-terminal domain: structure and function.
Huyton T et al.
Mutation Research, 2000