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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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| Publicado en: | Nat Commun |
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| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Nature Publishing Group
2015
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| Materias: | |
| Acceso en línea: | 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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