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Familial Cancer

, Volume 15, Issue 2, pp 215–219 | Cite as

CDH1 germline mutations and hereditary lobular breast cancer

  • Giovanni CorsoEmail author
  • Mattia Intra
  • Chiara Trentin
  • Paolo Veronesi
  • Viviana Galimberti
REVIEW

Abstract

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.

Keywords

Lobular breast cancer E-cadherin germline mutation Hereditary breast cancer 

Notes

Acknowledgments

This manuscript was support by AIRC 5 × 1000 grant.

Compliance with ethical standards

Conflict of interest

All other authors declare that they have no conflicts of interest.

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Copyright information

© Springer Science+Business Media Dordrecht 2016

Authors and Affiliations

  • Giovanni Corso
    • 1
    Email author
  • Mattia Intra
    • 1
  • Chiara Trentin
    • 2
  • Paolo Veronesi
    • 1
  • Viviana Galimberti
    • 1
  1. 1.Division of SenologyEuropean Institute of OncologyMilanItaly
  2. 2.Division of Breast ImagingEuropean Institute of OncologyMilanItaly

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