Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene
Valentina Silvestri, Veronica Zelli, Virginia Valentini, Piera Rizzolo, Anna Sara Navazio, Anna Coppa, Simona Agata, Cristina Oliani, Daniela Barana, Tiziana Castrignanò, Alessandra Viel, Antonio Russo, Maria Grazia Tibiletti, Ines Zanna, Giovanna Masala, Laura Cortesi, Siranoush Manoukian, Jacopo Azzollini, Bernard Peissel, Bernardo Bonanni, Paolo Peterlongo, Paolo Radice, Domenico Palli, Giuseppe Giannini, Giovanni Chillemi, Marco Montagna and Laura Ottini
Version of Record online: 20 SEP 2016 | DOI: 10.1002/cncr.30337
This study highlights the important role of partner and localizer of BRCA2 (PALB2) in high-risk, BRCA1/2 mutation–negative male breast cancer cases and indicates that male breast cancer may be helpful in the identification of PALB2 families. PALB2 seems now to be ready for clinical translation, and families with male breast cancer cases should be considered for PALB2 genetic testing with the aim of improving the clinical management of breast cancer patients and their relatives.