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Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
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 ef...
Autores principales: | Andrade, Kelvin C., Santiago, Karina M., Fortes, Fernanda P., Mambelli, Lisley I., Nóbrega, Amanda F., Achatz, Maria I. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910548/ https://www.ncbi.nlm.nih.gov/pubmed/27223487 http://dx.doi.org/10.1590/1678-4685-GMB-2014-0343 |
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