A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-lik...
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families
About this item
Full title
Author / Creator
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. and Benítez, Javier
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 same gene alteration is found...
Alternative Titles
Full title
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4598567
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4598567
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms9383
