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

Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53-negative Li–Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. The s...

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Udgivet i:Nat Commun
Main Authors: Calvete, Oriol, Martinez, Paula, Garcia-Pavia, Pablo, Benitez-Buelga, Carlos, Paumard-Hernández, Beatriz, Fernandez, Victoria, Dominguez, Fernando, Salas, Clara, Romero-Laorden, Nuria, Garcia-Donas, Jesus, Carrillo, Jaime, Perona, Rosario, Triviño, Juan Carlos, Andrés, Raquel, Cano, Juana María, Rivera, Bárbara, Alonso-Pulpon, Luis, Setien, Fernando, Esteller, Manel, Rodriguez-Perales, Sandra, Bougeard, Gaelle, Frebourg, Tierry, Urioste, Miguel, Blasco, Maria A., Benítez, Javier
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4598567/
https://ncbi.nlm.nih.gov/pubmed/26403419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms9383
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