CDH1 Germline Mutations and Hereditary Lobular Breast Cancer

Overview

Journal Fam Cancer

Publisher Springer

Specialty Oncology

Date 2016 Jan 14

PMID 26759166

Citations 50

Authors

Giovanni Corso

Mattia Intra

Chiara Trentin

Paolo Veronesi

Viviana Galimberti

Affiliations

Soon will be listed here.

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.

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