| Autor: |
Fanélie, Jouenne, Isaure, Chauvot de Beauchene, Emeline, Bollaert, Marie-Françoise, Avril, Olivier, Caron, Olivier, Ingster, Axel, Lecesne, Patrick, Benusiglio, Philippe, Terrier, Vincent, Caumette, Daniel, Pissaloux, Arnaud, de la Fouchardière, Odile, Cabaret, Birama, N'Diaye, Amélie, Velghe, Gaelle, Bougeard, Graham J, Mann, Serge, Koscielny, Jennifer H, Barrett, Mark, Harland, Julia, Newton-Bishop, Nelleke, Gruis, Remco, Van Doorn, Marion, Gauthier-Villars, Gaelle, Pierron, Dominique, Stoppa-Lyonnet, Isabelle, Coupier, Rosine, Guimbaud, Capucine, Delnatte, Jean-Yves, Scoazec, Alexander M, Eggermont, Jean, Feunteun, Luba, Tchertanov, Jean-Baptiste, Demoulin, Thierry, Frebourg, Brigitte, Bressac-de Paillerets |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
Journal of medical genetics. 54(9) |
| ISSN: |
1468-6244 |
| Popis: |
Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation inGermline mutations in |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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