Cancers (Jun 2020)
Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review
- 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
Affiliations
- Giovanni Corso
- Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Giacomo Montagna
- Breast Service, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
- Joana Figueiredo
- i3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, Portugal
- Carlo La Vecchia
- Department of Clinical Sciences and Community Health, University of Milan, 20133 Milan, Italy
- Uberto Fumagalli Romario
- Department of Digestive Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Maria Sofia Fernandes
- i3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, Portugal
- Susana Seixas
- i3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, Portugal
- Franco Roviello
- Departments of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy
- Cristina Trovato
- Division of Endoscopy, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Elena Guerini-Rocco
- Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy
- Nicola Fusco
- Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy
- Gabriella Pravettoni
- Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy
- Serena Petrocchi
- Applied Research Division for Cognitive and Psychological Science, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Anna Rotili
- Division of Breast Imaging, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Giulia Massari
- Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Francesca Magnoni
- Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Francesca De Lorenzi
- Division of Plastic Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Manuela Bottoni
- Division of Plastic Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Viviana Galimberti
- Division of Breast Surgery, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- João Miguel Sanches
- Institute for Systems and Robotics, Instituto Superior Técnico, 1049-001 Lisboa, Portugal
- Mariarosaria Calvello
- Division of Cancer Prevention and Genetics, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- Raquel Seruca
- i3S—Instituto de Investigação e Inovação em Saúde, University of Porto, 4200-135 Porto, Portugal
- Bernardo Bonanni
- Division of Cancer Prevention and Genetics, European Institute of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy
- DOI
- https://doi.org/10.3390/cancers12061598
- Journal volume & issue
-
Vol. 12,
no. 6
p. 1598
Abstract
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).
Keywords