TY  - JOUR
AU  - Calvete, Oriol
AU  - Martinez, Paula
AU  - Garcia-Pavia, Pablo
AU  - Benitez-Buelga, Carlos
AU  - Paumard-Hernandez B
AU  - Fernandez, Victoria
AU  - Dominguez, Fernando
AU  - Salas, Clara
AU  - Romero-Laorden, Nuria
AU  - Garcia-Donas, Jesus
AU  - Carrillo, Jaime
AU  - Perona, Rosario
AU  - Carlos Trivino, Juan
AU  - Andrés, Raquel
AU  - Maria Cano, Juana
AU  - Rivera, Barbara
AU  - Alonso-Pulpon, Luis
AU  - Setien, Fernando
AU  - Esteller, Manel
AU  - Rodriguez Perales, Sandra
AU  - Bougeard, Gaelle
AU  - Frebourg, Tierry
AU  - Urioste, Miguel
AU  - Blasco, MA
AU  - Benitez, Javier
PY  - 2015
DO  - 10.1038/ncomms9383
SN  - 2041-1723
UR  - http://hdl.handle.net/20.500.12105/5394
AB  - Cardiac angiosarcoma (CAS) is a rare malignant tumour whose geneticbasis is unknown. Here we show, by whole-exome sequencing of aTP53-negative Li-Fraumeni-like (LFL) family including CAS cases, that amissense variant (p.R117C) in POT1 (protection of...
LA  - eng
PB  - Nature Publishing Group
KW  - TELOMERE LENGTH
KW  - QUANTITATIVE PCR
KW  - PROTEIN
KW  - VARIANTS
KW  - REQUIREMENTS
KW  - MAINTENANCE
KW  - PREDISPOSE
KW  - EXPRESSION
KW  - PREDICTION
KW  - PROTECTION
TI  - A mutation in the POT1 gene is responsible for cardiac angiosarcoma inTP53-negative Li-Fraumeni-like families
TY  - journal article
ER  -