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...

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Publicado en:Genet Mol Biol
Autores principales: Andrade, Kelvin C., Santiago, Karina M., Fortes, Fernanda P., Mambelli, Lisley I., Nóbrega, Amanda F., Achatz, Maria I.
Formato: Artigo
Lenguaje:Inglês
Publicado: Sociedade Brasileira de Genética 2016
Materias:
Special Oncogenetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4910548/
https://ncbi.nlm.nih.gov/pubmed/27223487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2014-0343
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