Associated Papers
The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms.
Canson DM et al.
Genome Research, 2025
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.
Jansen AM et al.
European Journal of Human Genetics : Ejhg, 2018
Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.
Lattimore VL et al.
Frontiers in Oncology, 2018
Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.
de Jong LC et al.
Breast Cancer Research : Bcr, 2017
Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR.
Van Heetvelde M et al.
Biomolecular Detection and Quantification, 2017
Incidence of BRCA1 somatic mutations and response to neoadjuvant chemotherapy in Chinese women with triple-negative breast cancer.
Li M et al.
Gene, 2016
Functional characterization of BRCA1 gene variants by mini-gene splicing assay.
Steffensen AY et al.
European Journal of Human Genetics : Ejhg, 2014
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Colombo M et al.
Human Molecular Genetics, 2014
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Colombo M et al.
Plos One, 2013
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Menéndez M et al.
Breast Cancer Research and Treatment, 2012
Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer.
Zhang M et al.
Breast Cancer Research and Treatment, 2012
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Wappenschmidt B et al.
Plos One, 2012
BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data.
Fachal L et al.
The Prostate, 2011