PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

@article{Catucci2014PALB2SI,
  title={PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo},
  author={Irene Catucci and Paolo Peterlongo and Sara Ciceri and Mara Colombo and Graziella Pasquini and Monica Barile and Bernardo Bonanni and Paolo Verderio and Sara Pizzamiglio and Claudia Foglia and Anna Falanga and Marina R Marchetti and Laura Galastri and Tiziana Bianchi and Chiara Corna and Fernando Ravagnani and Loris Bernard and Stefano Fortuzzi and Domenico Sardella and Giulietta Scuvera and Bernard Peissel and Siranoush Manoukian and Carlo Tondini and Paolo Radice},
  journal={Genetics in Medicine},
  year={2014},
  volume={16},
  pages={688-694}
}
Purpose:Monoallelic germ-line deleterious mutations of PALB2 (partner and localizer of BRCA2) are associated with breast cancer risk and have been found in several populations, with carrier frequencies of ~1−2%. Initially, these mutations were considered to have moderate penetrance, but accumulating evidence now indicates that they are associated with much… CONTINUE READING