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  1. Article

    Open Access

    Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

    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.

    Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite… in Breast Cancer Research (2024)

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