Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

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

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation

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

BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels

(2011) Liying Zhang et al.   BREAST CANCER RESEARCH AND TREATMENT

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

(2011) Mireia Menéndez et al.   BREAST CANCER RESEARCH AND TREATMENT

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

(2011) Rita Dias Brandão et al.   BREAST CANCER RESEARCH AND TREATMENT

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

(2011) Mads Thomassen et al.   BREAST CANCER RESEARCH AND TREATMENT

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

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 prediction of mRNA splicing effects of BRCA1 and BRCA2 variants

(2011) Eliseos J. Mucaki et al.   HUMAN MUTATION

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 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

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 High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

(2010) D. J. Sanz et al.   CLINICAL 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

Genetic susceptibility to breast cancer

(2010) Nasim Mavaddat et al.   Molecular Oncology

An unusual BRCA2 allele carrying two splice site mutations

(2009) M. Colombo et al.   ANNALS OF ONCOLOGY

Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling

(2009) M. Pensabene et al.   ANNALS OF ONCOLOGY

Functional redundancy of exon 12 ofBRCA2revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

(2009) Lili Li et al.   HUMAN MUTATION

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

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

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

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

Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs

(2008) Maaike P.G. Vreeswijk et al.   HUMAN MUTATION

cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation

(2008) Liying Zhang et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

The emerging landscape of breast cancer susceptibility

(2007) Michael R Stratton et al.   NATURE GENETICS