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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Oriol Calvete, Paula Martinez, Pablo Garcia-Pavia, Carlos Benitez-Buelga, Beatriz Paumard-Hernández, Victoria Fernandez, Fernando Dominguez, Clara Salas, Nuria Romero-Laorden, Jesus Garcia-Donas, Jaime Carrillo, Rosario Perona, Juan Carlos Triviño, Raquel Andrés, Juana María Cano, Bárbara Rivera, Luis Alonso-Pulpon, Fernando Setien, Manel Esteller, Sandra Rodriguez-Perales, Gaelle Bougeard, Tierry Frebourg, Miguel Urioste, Maria A. Blasco, Javier Benítez

ABSTRACT

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 in two other LFL families with CAS, supporting the causal effect of the identified mutation. We extend the analysis to TP53-negative LFL families with no CAS and find the same mutation in a breast AS family. The mutation is recently found once in 121,324 studied alleles in ExAC server but it is not described in any other database or found in 1,520 Spanish controls. In silico structural analysis suggests how the mutation disrupts POT1 structure. Functional and in vitro studies demonstrate that carriers of the mutation show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomere fragility. More... »

PAGES

8383

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncomms9383

    DOI

    http://dx.doi.org/10.1038/ncomms9383

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1051254607

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26403419


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