Blood functional assay for rapid clinical interpretation of germline TP53 variants

Sabine Raad (1) , Marion Rolain , Sophie Coutant (1) , Céline Derambure (1) , Raphaël Lanos (1) , Francoise Charbonnier (1) , Jacqueline Bou (1) , Emilie Bouvignies (1) , Gwendoline Lienard (1) , Stéphanie Vasseur (1) , Michael Farrell , Olivier Ingster , Stéphanie Baert Desurmont , Edwige Kasper , Gaëlle Bougeard (1) , Thierry Frébourg (1) , Isabelle Tournier (1)

1 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques

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.

Mots clés: clinical laboratory techniques; genetic predisposition to disease; genetic testing; germ-line mutation; methods

Domaines: Génétique humaine

Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure, Raphaël Lanos, et al.. Blood functional assay for rapid clinical interpretation of germline TP53 variants. Journal of Medical Genetics, 2020, pp.jmedgenet-2020-107059. ⟨10.1136/jmedgenet-2020-107059⟩. ⟨hal-03106841⟩