Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite, Daniel Sdogati, Martin J Larsen, Qin Hao, Henriette Roed Nielsen, Susanne E Boonen, Anne-Bine Skytte, Uffe Birk Jensen, Louise K Høffding, Arcangela De Nicolo, Alessandra Viel, Emma Tudini, Michael T Parsons, Thomas V O Hansen, Maria Rossing, Torben A Kruse, Amanda B Spurdle, Mads Thomassen
BACKGROUND: Reports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with a Fanconi Anemia-like phenotype. METHODS: We identified two families with a BRCA1 in-frame exon 20 duplication (Ex20dup). In one male individual, the variant was in trans with the BRCA1 frameshift variant c.2475delC p.(Asp825Glufs*21). We performed splicing analysis and used a transcription activation domain (TAD) assay to assess the functional impact of Ex20dup...
January 9, 2024: Breast Cancer Research: BCR