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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Main Authors: Giovanni Corso, Giacomo Montagna, Joana Figueiredo, Carlo La Vecchia, Uberto Fumagalli Romario, Maria Sofia Fernandes, Susana Seixas, Franco Roviello, Cristina Trovato, Elena Guerini-Rocco, Nicola Fusco, Gabriella Pravettoni, Serena Petrocchi, Anna Rotili, Giulia Massari, Francesca Magnoni, Francesca De Lorenzi, Manuela Bottoni, Viviana Galimberti, João Miguel Sanches, Mariarosaria Calvello, Raquel Seruca, Bernardo Bonanni
Format: Article
Language:English
Published: MDPI AG 2020-06-01
Series:Cancers
Subjects:
Online Access:https://www.mdpi.com/2072-6694/12/6/1598
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author Giovanni Corso
Giacomo Montagna
Joana Figueiredo
Carlo La Vecchia
Uberto Fumagalli Romario
Maria Sofia Fernandes
Susana Seixas
Franco Roviello
Cristina Trovato
Elena Guerini-Rocco
Nicola Fusco
Gabriella Pravettoni
Serena Petrocchi
Anna Rotili
Giulia Massari
Francesca Magnoni
Francesca De Lorenzi
Manuela Bottoni
Viviana Galimberti
João Miguel Sanches
Mariarosaria Calvello
Raquel Seruca
Bernardo Bonanni
author_facet Giovanni Corso
Giacomo Montagna
Joana Figueiredo
Carlo La Vecchia
Uberto Fumagalli Romario
Maria Sofia Fernandes
Susana Seixas
Franco Roviello
Cristina Trovato
Elena Guerini-Rocco
Nicola Fusco
Gabriella Pravettoni
Serena Petrocchi
Anna Rotili
Giulia Massari
Francesca Magnoni
Francesca De Lorenzi
Manuela Bottoni
Viviana Galimberti
João Miguel Sanches
Mariarosaria Calvello
Raquel Seruca
Bernardo Bonanni
author_sort Giovanni Corso
collection DOAJ
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 doaj.art-f2a6213528994edb95c6de014b7816562023-11-20T04:05:40ZengMDPI AGCancers2072-66942020-06-01126159810.3390/cancers12061598Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical ReviewGiovanni Corso0Giacomo Montagna1Joana Figueiredo2Carlo La Vecchia3Uberto Fumagalli Romario4Maria Sofia Fernandes5Susana Seixas6Franco Roviello7Cristina Trovato8Elena Guerini-Rocco9Nicola Fusco10Gabriella Pravettoni11Serena Petrocchi12Anna Rotili13Giulia Massari14Francesca Magnoni15Francesca De Lorenzi16Manuela Bottoni17Viviana Galimberti18João Miguel Sanches19Mariarosaria Calvello20Raquel Seruca21Bernardo Bonanni22Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyBreast Service, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USAi3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, PortugalDepartment of Clinical Sciences and Community Health, University of Milan, 20133 Milan, ItalyDepartment of Digestive Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italyi3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, Portugali3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, PortugalDepartments of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, ItalyDivision of Endoscopy, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyDepartment of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, ItalyDepartment of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, ItalyDepartment of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, ItalyApplied Research Division for Cognitive and Psychological Science, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyDivision of Breast Imaging, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyDivision of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyDivision of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyDivision of Plastic Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyDivision of Plastic Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyDivision of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyInstitute for Systems and Robotics, Instituto Superior Técnico, 1049-001 Lisboa, PortugalDivision of Cancer Prevention and Genetics, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italyi3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, PortugalDivision of Cancer Prevention and Genetics, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, ItalyE-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).https://www.mdpi.com/2072-6694/12/6/1598gastric cancerbreast cancerE-cadherinCDH1 genegermline mutationshereditary syndrome
spellingShingle Giovanni Corso
Giacomo Montagna
Joana Figueiredo
Carlo La Vecchia
Uberto Fumagalli Romario
Maria Sofia Fernandes
Susana Seixas
Franco Roviello
Cristina Trovato
Elena Guerini-Rocco
Nicola Fusco
Gabriella Pravettoni
Serena Petrocchi
Anna Rotili
Giulia Massari
Francesca Magnoni
Francesca De Lorenzi
Manuela Bottoni
Viviana Galimberti
João Miguel Sanches
Mariarosaria Calvello
Raquel Seruca
Bernardo Bonanni
Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
Cancers
gastric cancer
breast cancer
E-cadherin
CDH1 gene
germline mutations
hereditary syndrome
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 gastric cancer
breast cancer
E-cadherin
CDH1 gene
germline mutations
hereditary syndrome
url https://www.mdpi.com/2072-6694/12/6/1598
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