Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction

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

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6

(2011) Michela Raponi et al.   HUMAN MUTATION

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2transcripts

(2010) Phillip J Whiley et al.   BMC Medical Genetics

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

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

(2010) P. Gaildrat et al.   JOURNAL OF MEDICAL GENETICS

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

(2010) Alfons Meindl et al.   NATURE GENETICS

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

(2009) V. Dosil et al.   CLINICAL CHEMISTRY

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

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

Proceedings of the International Consensus Conference on Breast Cancer Risk, Genetics, & Risk Management, April, 2007

(2008) Gordon F. Schwartz et al.   CANCER

Unclassified variants identified inBRCA1exon 11: Consequences on splicing

(2008) Olga Anczuków et al.   GENES CHROMOSOMES & CANCER

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

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

Clinically Applicable Models to CharacterizeBRCA1andBRCA2Variants of Uncertain Significance

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