BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

@article{Capalbo2006BRCA1AB,
  title={BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.},
  author={Carlo Capalbo and Enrico Ricevuto and Annarita Vestri and Elisabetta Ristori and Tina Sidoni and O Buffone and Barbara Adamo and Enrico Cortesi and Paolo Marchetti and Giovanni Scambia and Silverio Tomao and Christian Rinaldi and Massimo Zani and Sergio Ferraro and Luigi Frati and Isabella Screpanti and Alberto Gulino and Giuseppe Giannini},
  journal={Annals of oncology : official journal of the European Society for Medical Oncology},
  year={2006},
  volume={17 Suppl 7},
  pages={vii34-40}
}
BACKGROUND Breast cancer is an extremely complex disease, characterized by a progressive multistep process caused by interactions of both genetic and non-genetic factors. A combination of BRCA1 and BRCA2 gene mutations appears responsible for about 20%-30% of the cases with breast cancer familial history. The prevalence of BRCA1/2 pathogenic mutations largely varies within different populations; in particular, the rate of mutations in Italian breast and/or ovarian cancer families is rather… CONTINUE READING