Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene
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- 作者：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
- 刊名：Cancer
- 出版年：2017
- 出版时间：January 15, 2017
- 年：2017
- 卷：123
- 期：2
- 页码：210-218
- 全文大小：327K
- ISSN：1097-0142
文摘
Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation–negative MBC cases.