CDH1 germline mutations and hereditary lobular breast cancer

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• 作者：Giovanni Corso ; Mattia Intra ; Chiara Trentin ; Paolo Veronesi…
• 关键词：Lobular breast cancer ; E ; cadherin germline mutation ; Hereditary breast cancer
• 刊名：Familial Cancer
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：15
• 期：2
• 页码：215-219
• 全文大小：429 KB
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• 作者单位：Giovanni Corso (1)
  Mattia Intra (1)
  Chiara Trentin (2)
  Paolo Veronesi (1)
  Viviana Galimberti (1)
  
  1. Division of Senology, European Institute of Oncology, via G, Ripamonti 435, 20141, Milan, Italy
  2. Division of Breast Imaging, European Institute of Oncology, via G, Ripamonti 435, 20141, Milan, Italy
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  Human Genetics
  Epidemiology
  
• 出版者：Springer Netherlands
• ISSN：1573-7292

文摘

Hereditary diffuse gastric cancer is an autosomal dominant inherited disease associated of CDH1 germline mutations (that encodes for the E-cadherin protein), and lobular breast cancer is the second most frequent type of neoplasia. Recently, novel E-cadherin constitutional alterations have been identified in pedigree clustering only for lobular breast carcinoma without evidence of diffuse gastric tumors and in absence of BRCA1/2 mutations. This first evidence opens novel questions about the inherited correlation between diffuse gastric and lobular breast cancers. In this brief review we revise the literature data about the CDH1 mutation frequency affecting exclusively lobular breast cancer, providing clinical recommendation for asymptomatic mutation carriers.