Associated Papers
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.
Benet-Pagès A et al.
Genetics in Medicine Open, 2025
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Molecular Cancer, 2024
39103848 (PubMed )
Supplement: 12943_2024_2048_MOESM1_ESM.xlsx › Table_S8_-_ARIEL2_4_patient
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993400 (PubMed )
Supplement: media-1.xlsx › Table_S8_-_ARIEL2_4_patient
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
Vreeswijk MP et al.
Human Mutation, 2009
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