GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

(2018) Lucia Guidugli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The functional impact of variants of uncertain significance in BRCA2

(2018) Romy L. S. Mesman et al.   GENETICS IN MEDICINE

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

(2018) Timothy R. Rebbeck et al.   HUMAN MUTATION

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

(2018) Agostina Stradella et al.   JOURNAL OF MEDICAL GENETICS

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

(2016) Jacopo Azzollini et al.   European Journal of Internal Medicine

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

(2016) Pierre Thouvenot et al.   PLoS Genetics

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

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

An Efficient Pipeline for the Generation and Functional Analysis of HumanBRCA2Variants of Uncertain Significance

(2014) Giel Hendriks et al.   HUMAN MUTATION

Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment

(2014) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

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

(2014) Phillip J. Whiley et al.   PLoS One

Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1

(2014) Laura Caleca et al.   PLoS One

The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

(2013) FSM Hilbers et al.   CLINICAL GENETICS

Functional Assays for Analysis of Variants of Uncertain Significance inBRCA2

(2013) Lucia Guidugli et al.   HUMAN MUTATION

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

(2013) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization

(2013) Anand D Jeyasekharan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A High-Throughput Functional Complementation Assay for Classification of BRCA1 Missense Variants

(2013) P. Bouwman et al.   Cancer Discovery

A New Protein-Protein Interaction Sensor Based on Tripartite Split-GFP Association

(2013) Stéphanie Cabantous et al.   Scientific Reports

The Elephant and the Blind Men: Making Sense of PARP Inhibitors in Homologous Recombination Deficient Tumor Cells

(2013) Silvana B. De Lorenzo et al.   Frontiers in Oncology

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

(2012) L. Guidugli et al.   CANCER RESEARCH

APRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancer

(2012) Rachel Brough et al.   EMBO JOURNAL

A guide for functional analysis ofBRCA1variants of uncertain significance

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

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

(2012) Claude Houdayer et al.   HUMAN MUTATION

Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing

(2012) William I. Towler et al.   HUMAN MUTATION

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay

(2011) K. Biswas et al.   BLOOD

BRCA1 RING Function Is Essential for Tumor Suppression but Dispensable for Therapy Resistance

(2011) Rinske Drost et al.   CANCER CELL

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

(2011) Thomas v. O. Hansen et al.   Familial Cancer

Assessment of human nter and cterBRCA1mutations using growth and localization assays in yeast

(2011) Gaël A. Millot et al.   HUMAN MUTATION

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

(2011) Noralane M. Lindor et al.   HUMAN MUTATION

Functional differences among BRCA1 missense mutations in the control of centrosome duplication

(2011) Z Kais et al.   ONCOGENE

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

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

Impact of RING and BRCT Domain Mutations on BRCA1 Protein Stability, Localization and Recruitment to DNA Damage

(2010) Andrew C. Nelson et al.   RADIATION RESEARCH

Characterization of BRCA1 ring finger variants of uncertain significance

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

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

(2008) D. J. Farrugia et al.   CANCER RESEARCH

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

(2008) Sean V. Tavtigian 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

Clinically Applicable Models to CharacterizeBRCA1andBRCA2Variants of Uncertain Significance

(2008) Andrew D. Spearman et al.   JOURNAL OF CLINICAL ONCOLOGY

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

The ubiquitin E3 ligase activity of BRCA1 and its biological functions

(2008) Wenwen Wu et al.   Cell Division