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

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Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
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Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy
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Breast Service, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
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i3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, Portugal
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Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), 4200-135 Porto, Portugal
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Department of Clinical Sciences and Community Health, University of Milan, 20133 Milan, Italy
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Department of Digestive Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
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Departments of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy
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Division of Endoscopy, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
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Division of Pathology, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
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Applied Research Division for Cognitive and Psychological Science, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
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Division of Breast Imaging, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
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Division of Plastic Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
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Institute for Systems and Robotics, Instituto Superior Técnico, 1049-001 Lisboa, Portugal
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Division of Cancer Prevention and Genetics, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
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Medical Faculty, University of Porto, 4099-002 Porto, Portugal
*
Author to whom correspondence should be addressed.
These Authors contributed equally to this work.
Cancers 2020, 12(6), 1598; https://doi.org/10.3390/cancers12061598
Received: 27 May 2020 / Revised: 9 June 2020 / Accepted: 12 June 2020 / Published: 17 June 2020
(This article belongs to the Section Cancer Causes, Screening and Diagnosis)
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). View Full-Text
Keywords: gastric cancer; breast cancer; E-cadherin; CDH1 gene; germline mutations; hereditary syndrome; prophylactic surgery gastric cancer; breast cancer; E-cadherin; CDH1 gene; germline mutations; hereditary syndrome; prophylactic surgery
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MDPI and ACS Style

Corso, G.; Montagna, G.; Figueiredo, J.; La Vecchia, C.; Fumagalli Romario, U.; Fernandes, M.S.; Seixas, S.; Roviello, F.; Trovato, C.; Guerini-Rocco, E.; Fusco, N.; Pravettoni, G.; Petrocchi, S.; Rotili, A.; Massari, G.; Magnoni, F.; De Lorenzi, F.; Bottoni, M.; Galimberti, V.; Sanches, J.M.; Calvello, M.; Seruca, R.; Bonanni, B. Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review. Cancers 2020, 12, 1598.

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