Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil
In: Cancer, Jg. 119 (2013-10-07), S. 4341-4349
Online
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Zugriff:
BACKGROUND Pediatric cancers are a feature in patients with Li-Fraumeni syndrome and its variant Li-Fraumeni–like syndrome (LFS/LFL). To the best of the authors' knowledge, TP53 germline mutations are currently the only molecular defect known to be associated with this disease. Recently, a specific germline mutation in this gene, p.R337H, has been reported at a high prevalence in Brazil. METHODS The prevalence of LFS/LFL was investigated in children with cancer who were diagnosed with tumors on the LFS/LFL spectrum and in a small consecutive series of controls without cancer. The prevalence of the germline p.R337H mutation and of other germline TP53 mutations was investigated in a general group of children with cancer and exclusively in children fulfilling the clinical criteria for LFS/LFL, respectively. RESULTS Among the 65 children without cancer, 1.5% had a family history of LFL whereas of the 292 children with cancer, 25.3% had a family history of LFL (P
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Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil
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| Autor/in / Beteiligte Person: | Ashton-Prolla, Patricia ; Silvia Liliana Cossio ; Cristina Brinckmann Oliveira Netto ; Alemar, Barbara ; Daniela Elaine Roth ; Giacomazzi, Juliana ; Zagonel-Oliveira, Marcelo ; Simone Geiger de Almeida Selistre ; Suzi Alves Camey ; Fernando de Souza Pereira ; Algemir Lunardi Brunetto ; Santos-Silva, Patricia ; José Roberto Goldim ; Martel-Planche, Ghyslaine ; Hainaut, Pierre ; Rossi, Cristina |
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| Zeitschrift: | Cancer, Jg. 119 (2013-10-07), S. 4341-4349 |
| Veröffentlichung: | Wiley, 2013 |
| Medientyp: | unknown |
| ISSN: | 0008-543X (print) |
| DOI: | 10.1002/cncr.28346 |
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