Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

(2013) P. J. Whiley et al.   CLINICAL CHEMISTRY

Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines

(2013) Logan C. Walker et al.   HUMAN MUTATION

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

(2013) Mara Colombo et al.   PLoS One

BRCA1exon 11 alternative splicing, multiple functions and the association with cancer

(2012) Claudia Tammaro et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

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

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

Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age

(2010) Dorina M. van der Kolk et al.   BREAST CANCER RESEARCH AND TREATMENT

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

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

(2010) Ane Y. Steffensen et al.   Familial Cancer

The silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

(2009) Thomas V. O. Hansen et al.   BREAST CANCER RESEARCH AND TREATMENT

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

(2009) V. Dosil et al.   CLINICAL CHEMISTRY

Missed threads. The impact of pre-mRNA splicing defects on clinical practice

(2009) Diana Baralle et al.   EMBO REPORTS

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer

(2008) Mads Thomassen et al.   ACTA ONCOLOGICA

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

Novel de novo BRCA2mutation in a patient with a family history of breast cancer

(2008) Thomas V O Hansen et al.   BMC Medical Genetics

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

(2008) Thomas v. O. Hansen et al.   BREAST CANCER RESEARCH AND TREATMENT

Prediction and assessment of splicing alterations: implications for clinical testing

(2008) Amanda B. Spurdle et al.   HUMAN MUTATION