Article
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Breast cancer research : BCR - 9 Jan 2024
Block Ines, Mateu-Regué Àngels, Do Thi Tuyet Nhu, Miceikaite Ieva, Sdogati Daniel, Larsen Martin J, Hao Qin, Nielsen Henriette Roed, Boonen Susanne E, Skytte Anne-Bine, Jensen Uffe Birk, Høffding Louise K, De Nicolo Arcangela, Viel Alessandra, Tudini Emma, Parsons Michael T, Hansen Thomas V O, Rossing Maria, Kruse Torben A, Spurdle Amanda B, Thomassen Mads
Abstract excerpt
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...
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