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_S1.xlsx › S1.splicing_results_summary
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_2
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
39669587 (PubMed )
Supplement: mmc1.xlsx › Table_S2
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.
Buleje J et al.
Molecular Genetics & Genomic Medicine, 2017
Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers.
Custodio A et al.
Journal of Cancer Research and Clinical Oncology, 2012
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Menéndez M et al.
Breast Cancer Research and Treatment, 2012
The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.
Gutiérrez-Enríquez S et al.
Breast Cancer Research and Treatment, 2009
Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations.
Osorio A et al.
European Journal of Human Genetics : Ejhg, 2003
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