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BRCA1
NM_007294.4:p.G183_S198delFs
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
40769711 (PubMed )
Supplement: Supplemental_Table_S6.xlsx › S6.nomenclature
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
29774201 (PubMed )
Supplement: table_6.xlsx › Sheet1
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
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
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
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