Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation

@inproceedings{Andrade2016EarlyonsetBC,
  title={Early-onset breast cancer patients in the South and Southeast of Brazil
should be tested for the TP53 p.R337H mutation},
  author={Kelvin C. Andrade and Karina Miranda Santiago and Fernanda Paschoal Fortes and Lisley Inata Mambelli and Amanda França de N{\'o}brega and Maria Isabel Waddington Achatz},
  booktitle={Genetics and molecular biology},
  year={2016}
}
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… CONTINUE READING
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