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01-04-2016 | REVIEW

CDH1 germline mutations and hereditary lobular breast cancer

Authors: Giovanni Corso, Mattia Intra, Chiara Trentin, Paolo Veronesi, Viviana Galimberti

Published in: Familial Cancer | Issue 2/2016

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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Title: CDH1 germline mutations and hereditary lobular breast cancer
Authors: Giovanni Corso
Mattia Intra
Chiara Trentin
Paolo Veronesi
Viviana Galimberti
Publication date: 01-04-2016
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 2/2016
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-016-9869-5

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