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Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

E-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium...

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Autores principales: Corso, Giovanni, Montagna, Giacomo, Figueiredo, Joana, La Vecchia, Carlo, Fumagalli Romario, Uberto, Fernandes, Maria Sofia, Seixas, Susana, Roviello, Franco, Trovato, Cristina, Guerini-Rocco, Elena, Fusco, Nicola, Pravettoni, Gabriella, Petrocchi, Serena, Rotili, Anna, Massari, Giulia, Magnoni, Francesca, De Lorenzi, Francesca, Bottoni, Manuela, Galimberti, Viviana, Sanches, João Miguel, Calvello, Mariarosaria, Seruca, Raquel, Bonanni, Bernardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352390/
https://www.ncbi.nlm.nih.gov/pubmed/32560361
http://dx.doi.org/10.3390/cancers12061598
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author Corso, Giovanni
Montagna, Giacomo
Figueiredo, Joana
La Vecchia, Carlo
Fumagalli Romario, Uberto
Fernandes, Maria Sofia
Seixas, Susana
Roviello, Franco
Trovato, Cristina
Guerini-Rocco, Elena
Fusco, Nicola
Pravettoni, Gabriella
Petrocchi, Serena
Rotili, Anna
Massari, Giulia
Magnoni, Francesca
De Lorenzi, Francesca
Bottoni, Manuela
Galimberti, Viviana
Sanches, João Miguel
Calvello, Mariarosaria
Seruca, Raquel
Bonanni, Bernardo
author_facet Corso, Giovanni
Montagna, Giacomo
Figueiredo, Joana
La Vecchia, Carlo
Fumagalli Romario, Uberto
Fernandes, Maria Sofia
Seixas, Susana
Roviello, Franco
Trovato, Cristina
Guerini-Rocco, Elena
Fusco, Nicola
Pravettoni, Gabriella
Petrocchi, Serena
Rotili, Anna
Massari, Giulia
Magnoni, Francesca
De Lorenzi, Francesca
Bottoni, Manuela
Galimberti, Viviana
Sanches, João Miguel
Calvello, Mariarosaria
Seruca, Raquel
Bonanni, Bernardo
author_sort Corso, Giovanni
collection PubMed
description E-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium revised the clinical criteria and established guidelines for the genetic screening of CDH1 germline syndromes. Nevertheless, the introduction of multigene panel testing in clinical practice has led to an increased identification of E-cadherin mutations in individuals without a positive family history of gastric or breast cancers. This observation motivated us to review and present a novel multidisciplinary clinical approach (nutritional, surgical, and image screening) for single subjects who present germline CDH1 mutations but do not fulfil the classic clinical criteria, namely those identified as—(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC).
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spelling pubmed-73523902020-07-15 Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review Corso, Giovanni Montagna, Giacomo Figueiredo, Joana La Vecchia, Carlo Fumagalli Romario, Uberto Fernandes, Maria Sofia Seixas, Susana Roviello, Franco Trovato, Cristina Guerini-Rocco, Elena Fusco, Nicola Pravettoni, Gabriella Petrocchi, Serena Rotili, Anna Massari, Giulia Magnoni, Francesca De Lorenzi, Francesca Bottoni, Manuela Galimberti, Viviana Sanches, João Miguel Calvello, Mariarosaria Seruca, Raquel Bonanni, Bernardo Cancers (Basel) Review E-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium revised the clinical criteria and established guidelines for the genetic screening of CDH1 germline syndromes. Nevertheless, the introduction of multigene panel testing in clinical practice has led to an increased identification of E-cadherin mutations in individuals without a positive family history of gastric or breast cancers. This observation motivated us to review and present a novel multidisciplinary clinical approach (nutritional, surgical, and image screening) for single subjects who present germline CDH1 mutations but do not fulfil the classic clinical criteria, namely those identified as—(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC). MDPI 2020-06-17 /pmc/articles/PMC7352390/ /pubmed/32560361 http://dx.doi.org/10.3390/cancers12061598 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Corso, Giovanni
Montagna, Giacomo
Figueiredo, Joana
La Vecchia, Carlo
Fumagalli Romario, Uberto
Fernandes, Maria Sofia
Seixas, Susana
Roviello, Franco
Trovato, Cristina
Guerini-Rocco, Elena
Fusco, Nicola
Pravettoni, Gabriella
Petrocchi, Serena
Rotili, Anna
Massari, Giulia
Magnoni, Francesca
De Lorenzi, Francesca
Bottoni, Manuela
Galimberti, Viviana
Sanches, João Miguel
Calvello, Mariarosaria
Seruca, Raquel
Bonanni, Bernardo
Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
title Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
title_full Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
title_fullStr Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
title_full_unstemmed Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
title_short Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
title_sort hereditary gastric and breast cancer syndromes related to cdh1 germline mutation: a multidisciplinary clinical review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352390/
https://www.ncbi.nlm.nih.gov/pubmed/32560361
http://dx.doi.org/10.3390/cancers12061598
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