Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations

@article{Marroni2004PenetrancesOB,
  title={Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations},
  author={Fabio Marroni and Paolo Aretini and E. D'andrea and Maria A Caligo and Laura Cortesi and Alessandra Viel and Enrico Ricevuto and Marco Montagna and Giovanna Cipollini and Massimo Federico and Manuela Santarosa and Paolo Marchetti and Joan E. Bailey-Wilson and Generoso Bevilacqua and Giovanni Parmigiani and Silvano Presciuttini},
  journal={European Journal of Human Genetics},
  year={2004},
  volume={12},
  pages={899-906}
}
Accurate estimates of breast and ovarian cancer penetrance in BRCA1/2 mutation carriers are crucial in genetic counseling. Estimation is difficult because of the low frequency of mutated alleles and the often-uncertain mechanisms of family ascertainment. We estimated the penetrances of breast and ovarian cancers in carriers of BRCA1/2 mutations by maximizing the retrospective likelihood of the genetic model, given the observed test results, in 568 Italian families screened for germline… CONTINUE READING

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breast cancer, and BRCA1 and BRCA2 germline mutations

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