{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T23:10:19Z","timestamp":1775603419497,"version":"3.50.1"},"reference-count":165,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T00:00:00Z","timestamp":1592352000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2016-02361655"],"award-info":[{"award-number":["GR-2016-02361655"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>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\u2014(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC).<\/jats:p>","DOI":"10.3390\/cancers12061598","type":"journal-article","created":{"date-parts":[[2020,6,18]],"date-time":"2020-06-18T11:00:56Z","timestamp":1592478056000},"page":"1598","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9269-0146","authenticated-orcid":false,"given":"Giovanni","family":"Corso","sequence":"first","affiliation":[{"name":"Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"},{"name":"Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy"}]},{"given":"Giacomo","family":"Montagna","sequence":"additional","affiliation":[{"name":"Breast Service, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1590-1974","authenticated-orcid":false,"given":"Joana","family":"Figueiredo","sequence":"additional","affiliation":[{"name":"i3S\u2014Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, 4200-135 Porto, Portugal"},{"name":"Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1441-897X","authenticated-orcid":false,"given":"Carlo","family":"La Vecchia","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health, University of Milan, 20133 Milan, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6865-8971","authenticated-orcid":false,"given":"Uberto","family":"Fumagalli Romario","sequence":"additional","affiliation":[{"name":"Department of Digestive Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Maria Sofia","family":"Fernandes","sequence":"additional","affiliation":[{"name":"i3S\u2014Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, 4200-135 Porto, Portugal"},{"name":"Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7035-7422","authenticated-orcid":false,"given":"Susana","family":"Seixas","sequence":"additional","affiliation":[{"name":"i3S\u2014Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, 4200-135 Porto, Portugal"},{"name":"Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), 4200-135 Porto, Portugal"}]},{"given":"Franco","family":"Roviello","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy"}]},{"given":"Cristina","family":"Trovato","sequence":"additional","affiliation":[{"name":"Division of Endoscopy, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Elena","family":"Guerini-Rocco","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy"},{"name":"Division of Pathology, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9101-9131","authenticated-orcid":false,"given":"Nicola","family":"Fusco","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy"},{"name":"Division of Pathology, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Gabriella","family":"Pravettoni","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy"},{"name":"Applied Research Division for Cognitive and Psychological Science, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Serena","family":"Petrocchi","sequence":"additional","affiliation":[{"name":"Applied Research Division for Cognitive and Psychological Science, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Anna","family":"Rotili","sequence":"additional","affiliation":[{"name":"Division of Breast Imaging, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9325-0927","authenticated-orcid":false,"given":"Giulia","family":"Massari","sequence":"additional","affiliation":[{"name":"Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9208-988X","authenticated-orcid":false,"given":"Francesca","family":"Magnoni","sequence":"additional","affiliation":[{"name":"Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Francesca","family":"De Lorenzi","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Manuela","family":"Bottoni","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Viviana","family":"Galimberti","sequence":"additional","affiliation":[{"name":"Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9089-2740","authenticated-orcid":false,"given":"Jo\u00e3o Miguel","family":"Sanches","sequence":"additional","affiliation":[{"name":"Institute for Systems and Robotics, Instituto Superior T\u00e9cnico, 1049-001 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2113-8503","authenticated-orcid":false,"given":"Mariarosaria","family":"Calvello","sequence":"additional","affiliation":[{"name":"Division of Cancer Prevention and Genetics, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]},{"given":"Raquel","family":"Seruca","sequence":"additional","affiliation":[{"name":"i3S\u2014Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, 4200-135 Porto, Portugal"},{"name":"Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), 4200-135 Porto, Portugal"},{"name":"Medical Faculty, University of Porto, 4099-002 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3589-2128","authenticated-orcid":false,"given":"Bernardo","family":"Bonanni","sequence":"additional","affiliation":[{"name":"Division of Cancer Prevention and Genetics, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy"}]}],"member":"1968","published-online":{"date-parts":[[2020,6,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/32918","article-title":"E-cadherin germline mutations in familial gastric cancer","volume":"392","author":"Guilford","year":"1998","journal-title":"Nature"},{"key":"ref_2","first-page":"287","article-title":"Familial gastric cancer","volume":"63","author":"Jones","year":"1964","journal-title":"N. 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