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 dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.
Diederichs S et al.
Embo Molecular Medicine, 2016
26992833 (PubMed )
Supplement: EMMM-8-442-s002.docx
Contribution of mutations in ATM to breast cancer development in the Czech population.
Soukupova J et al.
Oncology Reports, 2008
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
Broeks A et al.
Breast Cancer Research and Treatment, 2008
ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.
Bernstein JL et al.
British Journal of Cancer, 2003
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