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

A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to BRCA1

(2011) E. S. Iversen et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

(2011) Phillip J. Whiley et al.   HUMAN MUTATION

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

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

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

(2010) E. Beristain et al.   Familial Cancer

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

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

Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors

(2008) Anita L. Bane et al.   BREAST CANCER RESEARCH AND TREATMENT

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

(2008) A C Antoniou et al.   BRITISH JOURNAL OF CANCER

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

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

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

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

(2008) Robert M.W. Hofstra 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

Mouse embryonic stem cell–based functional assay to evaluate mutations in BRCA2

(2008) Sergey G Kuznetsov et al.   NATURE MEDICINE