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BRCA1 VUS

Lourenço, Rita Adubeiro; Lança, Miguel; Monteiro Gil, Octávia; Cardoso, Joana; Lourenço, Teresa; Pereira-Leal, José; Rodrigues, António Sebastião

Genetic testing for susceptibility genes through next‑generation sequencing (NGS) has become a widely used technique. Using this, a number of genetic variants have been identified, several of which are variants of unknown significance (VUS). These VUS can either be pathogenic or benign. However, since their biological effect remains unclear, functional assays are required to classify their functional nature. As...


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