Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

(2013) J.M. Eggington et al.   CLINICAL GENETICS

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

(2012) L. Guidugli et al.   CANCER RESEARCH

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay

(2012) Kajal Biswas et al.   HUMAN MOLECULAR GENETICS

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

(2012) Amanda B Spurdle et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) K. Biswas et al.   BLOOD

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

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

Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155

(2011) Suhwan Chang et al.   NATURE MEDICINE

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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

(2009) Leila Mohammadi et al.   BMC CANCER

BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications

(2009) Allison W Kurian   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Spectrum and characterisation of BRCA1 and BRCA2deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

(2008) Eva Machackova et al.   BMC CANCER

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

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

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE