Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes

(2015) E.T. Rosenthal et al.   CLINICAL GENETICS

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

(2014) Ane Y Steffensen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

BRCA1, a ‘complex’ protein involved in the maintenance of genomic stability

(2014) Kienan I. Savage et al.   FEBS Journal

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

(2014) Mara Colombo et al.   HUMAN MOLECULAR GENETICS

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

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

(2013) Kyriaki Michailidou et al.   NATURE GENETICS

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

(2013) Fergus J. Couch et al.   PLoS Genetics

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

(2012) Michela Raponi et al.   PLoS One

STRUCTURE-FUNCTION OF THE TUMOR SUPPRESSOR BRCA1

(2012) Serena L. Clark et al.   Computational and Structural Biotechnology Journal

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

(2011) Amanda B. Spurdle et al.   HUMAN MUTATION

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

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

(2011) R. Shakya et al.   SCIENCE

Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C>T as a Case Study

(2009) V. Dosil et al.   CLINICAL CHEMISTRY

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

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