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| Andrade,Kelvin C.; Santiago,Karina M.; Fortes,Fernanda P.; Mambelli,Lisley I.; Nóbrega,Amanda F.; Achatz,Maria I.. |
| Abstract Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. In southern and southeastern Brazil, a high frequency of a germline TP53 mutation, p.R337H, was diagnosed in 0,3% of the population due to a founder effect. Carriers are at risk for developing cancer but the penetrance is lower than in typical DNA binding domain mutations. To date, only a few families were detected and diagnosis of carriers remains a challenge. Therefore, the inclusion of additional criteria to detect p.R337H carriers is necessary for the Brazilian population. We assessed the A.C. Camargo Cancer Center Oncogenetics Department database in search of common characteristics associated... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Breast cancer; Li-Fraumeni syndrome; P.R337H; TP53. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200199 |
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