A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

Oriol Calvete , Paula Martinez , Pablo Garcia-Pavia , Carlos Benitez-Buelga , Beatriz Paumard-Hernández , Victoria Fernandez (1) , Fernando Dominguez , Clara Salas , Nuria Romero-Laorden , Jesus Garcia-Donas , Jaime Carrillo (2) , Rosario Perona , Juan Carlos Triviño , Raquel Andrés (3) , Juana María Cano , Bárbara Rivera , Luis Alonso-Pulpon , Fernando Setien , Manel Esteller (4) , Sandra Rodriguez-Perales , Gaëlle Bougeard (5) , Thierry Frebourg (5) , Miguel Urioste (6) , María Blasco (7) , Javier Benítez

1 Département des Arts graphiques, Musée du Louvre, Paris, France
2 CSIC-UAM - Departamento de Biología Molecular y Celular del Cáncer
3 Medical Oncology Division
4 Cancer Epigenetics Laboratory
5 GMFC - Génétique du cancer et des maladies neuropsychiatriques
6 Group of Human Genetics
7 CNIO - Spanish National Cancer Research Center

Domaines: Génétique humaine

Oriol Calvete, Paula Martinez, Pablo Garcia-Pavia, Carlos Benitez-Buelga, Beatriz Paumard-Hernández, et al.. A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families. Nature Communications, 2015, 6 (1), ⟨10.1038/ncomms9383⟩. ⟨hal-02356340⟩