Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines

(2013) Logan C. Walker et al.   HUMAN MUTATION

A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

(2012) L. Guidugli et al.   CANCER RESEARCH

The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells

(2012) Jan Sevcik et al.   CELLULAR SIGNALLING

A guide for functional analysis ofBRCA1variants of uncertain significance

(2012) Gaël A. Millot et al.   HUMAN MUTATION

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation

(2012) Pascaline Gaildrat et al.   JOURNAL OF MEDICAL GENETICS

Evolutionary Constraint Helps Unmask a Splicing Regulatory Region in BRCA1 Exon 11

(2012) Michela Raponi et al.   PLoS One

Biallelic Deleterious BRCA1 Mutations in a Woman with Early-Onset Ovarian Cancer

(2012) Susan M. Domchek et al.   Cancer Discovery

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

(2011) Jean Christophe Théry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

(2011) Maxime P. Vallée et al.   HUMAN MUTATION

BRCA1 Tumor Suppression Depends on BRCT Phosphoprotein Binding, But Not Its E3 Ligase Activity

(2011) R. Shakya et al.   SCIENCE

Identification of Breast Tumor Mutations in BRCA1 That Abolish Its Function in Homologous DNA Recombination

(2010) D. J.R. Ransburgh et al.   CANCER RESEARCH

Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays

(2010) Megan S. Lee et al.   CANCER RESEARCH

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

(2010) Amanda B Spurdle   CURRENT OPINION IN GENETICS & DEVELOPMENT

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

(2010) Logan C. Walker et al.   HUMAN MUTATION

Characterization of BRCA1 ring finger variants of uncertain significance

(2009) Kevin Sweet et al.   BREAST CANCER RESEARCH AND TREATMENT

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

(2009) Suhwan Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

(2008) David E. Goldgar et al.   HUMAN MUTATION

Prediction and assessment of splicing alterations: implications for clinical testing

(2008) Amanda B. Spurdle et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

(2008) Amanda B. Spurdle et al.   JOURNAL OF CLINICAL ONCOLOGY

Re-engineering a split-GFP reassembly screen to examine RING-domain interactions between BARD1 and BRCA1 mutants observed in cancer patients

(2008) Mohosin Sarkar et al.   Molecular BioSystems