CDH1 germline mutations and hereditary lobular breast cancer

Fam Cancer. 2016 Apr;15(2):215-9. doi: 10.1007/s10689-016-9869-5.

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: E-cadherin germline mutation; Hereditary breast cancer; Lobular breast cancer.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antigens, CD
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / surgery
  • Cadherins / genetics*
  • Carcinoma, Lobular / genetics*
  • Carcinoma, Lobular / surgery
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Germ-Line Mutation*
  • Heterozygote
  • Humans
  • Mutation Rate

Substances

  • Antigens, CD
  • CDH1 protein, human
  • Cadherins

Supplementary concepts

  • Breast Cancer, Familial