Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants

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

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

Somatic Mutations of the Tyrosine Kinase Domain of Epidermal Growth Factor Receptor and Tyrosine Kinase Inhibitor Response to TKIs in Non-small Cell Lung Cancer: An Analytical Database

(2010) Samuel Murray et al.   Journal of Thoracic 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

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

(2009) Virginie Caux-Moncoutier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Using high-density exon arrays to profile gene expression in closely related species

(2009) Lan Lin et al.   NUCLEIC ACIDS RESEARCH

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

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

The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts

(2008) Sara Gutiérrez-Enríquez et al.   BREAST CANCER RESEARCH AND TREATMENT

Functional Assays for Classification of BRCA2 Variants of Uncertain Significance

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

Unclassified variants identified inBRCA1exon 11: Consequences on splicing

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

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

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

Patterns of missplicing caused byRB1gene mutations in patients with retinoblastoma and association with phenotypic expression

(2008) Katherine Zhang et al.   HUMAN MUTATION

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

(2008) Isabelle Tournier et al.   HUMAN MUTATION

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

(2008) Claude Houdayer 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