CDH1 germline mutations and hereditary lobular breast cancer

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1-5
Number of pages5
JournalFamilial Cancer
Publication statusAccepted/In press - Jan 13 2016


  • E-cadherin germline mutation
  • Hereditary breast cancer
  • Lobular breast cancer

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Oncology
  • Genetics(clinical)


Dive into the research topics of 'CDH1 germline mutations and hereditary lobular breast cancer'. Together they form a unique fingerprint.

Cite this