Article
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Journal of medical genetics - 1 Dec 2021
Raad Sabine, Rolain Marion, Coutant Sophie, Derambure Céline, Lanos Raphael, Charbonnier Françoise, Bou Jacqueline, Bouvignies Emilie, Lienard Gwendoline, Vasseur Stéphanie, Farrell Michael, Ingster Olivier, Baert Desurmont Stéphanie, Kasper Edwige, Bougeard Gaëlle, Frébourg Thierry, Tournier Isabelle
Abstract excerpt
BACKGROUND: The interpretation of germline TP53 variants is critical to ensure appropriate medical management of patients with cancer and follow-up of variant carriers. This interpretation remains complex and is becoming a growing challenge considering the exponential increase in TP53 tests. We developed a functional assay directly performed on patients' blood. METHODS: Peripheral blood mononuclear cells were...
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