Article
BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer.
Molecular medicine reports - 1 Jul 2023
Lourenço Rita Adubeiro, Lança Miguel, Monteiro Gil Octávia, Cardoso Joana, Lourenço Teresa, Pereira-Leal José B, Rodrigues António Sebastião, Rueff José, Nunes Silva Susana
Abstract excerpt
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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