EMSY copy number variation in male breast cancers characterized for BRCA1 and BRCA2 mutations

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• 作者：Anna Sara Navazio ; Piera Rizzolo…
• 关键词：Male breast cancer ; EMSY ; Copy number variation ; BRCA1/2 germ ; line mutations
• 刊名：Breast Cancer Research and Treatment
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：160
• 期：1
• 页码：181-186
• 全文大小：433 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  
• 出版者：Springer Netherlands
• ISSN：1573-7217
• 卷排序：160

文摘

PurposeMale breast cancer (MBC) is a rare disease that shares some similarities with female breast cancer (FBC). Like FBC, genetic susceptibility to MBC can be referred to mutations in BRCA1 and, particularly, BRCA2 genes. However, only about 10 % of MBCs are caused by BRCA1/2 germ-line mutations, while the largest part are sporadic cancers and may derive from somatic alterations. EMSY, a BRCA2 inactivating gene, emerged as a candidate gene involved in the pathogenesis of sporadic FBC, and its amplification was suggested to be the somatic counterpart of BRCA2 mutations. Considering the relevant role of BRCA2 in MBC, we aimed at investigating the role of EMSY gene copy number variations in male breast tumors.