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Cancers
Special Issues
E-cadherin Mutations in Cancer
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E-cadherin Mutations in Cancer

A special issue of Cancers (ISSN 2072-6694).

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 11714

Special Issue Editors

Dr. Bernardo Bonanni

E-Mail Website
Guest Editor
Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO) IRCCS, 20141 Milan, Italy
Interests: cancer genetics and prevention; E-cadherin; CDH1 mutations; hereditary cancers
Special Issues, Collections and Topics in MDPI journals
Dr. Giovanni Corso

E-Mail Website
Guest Editor
1. European Institute of Oncology, Milan, Italy
2. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy
Interests: E-cadherin; CDH1 mutations; breast surgery; hereditary cancers

Special Issue Information

Dear Colleagues,

We are pleased to introduce you a new Special Issue with the topic “E-cadherin Mutations in Cancer”. Due to the increased mutation rate in patients with or without gastric cancer, it is urgent to determine new indications for screening strategies in accordance with the family history of patients, gastric cancer incidence, and its related geographical area.

In this Special Issue, we will publish reviews and original research that provide new insights into the role of CDH1 germline mutations in gastric cancer, with a special attention on missense mutations.

Dr. Bernardo Bonanni
Dr. Giovanni Corso
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • CDH1 mutation
  • Gastric cancer
  • Hereditary cancer
  • Missense mutation
  • Family history

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Published Papers (4 papers)

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Editorial

Jump to: Research, Review, Other

3 pages, 479 KiB  
Editorial
E-Cadherin (CDH1 Gene) Germline Mutations in Gastric Cancer: Evolutions and Innovations
by Giovanni Corso and Bernardo Bonanni
Cancers 2020, 12(10), 2920; https://doi.org/10.3390/cancers12102920 - 11 Oct 2020
Cited by 2 | Viewed by 1806
Abstract
Family history has contributed greatly to understanding inherited diseases throughout the centuries, in particular familial and hereditary cancer syndromes [...] Full article
(This article belongs to the Special Issue E-cadherin Mutations in Cancer)
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Research

Jump to: Editorial, Review, Other

17 pages, 3399 KiB  
Article
Germline CDH1 G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden
by Joana Figueiredo, Fátima Mercadillo, Soraia Melo, Alicia Barroso, Margarida Gonçalves, José Díaz-Tasende, Patrícia Carneiro, Luis Robles, Francisco Colina, Carolina Ibarrola, José Perea, Eurico Morais-de-Sá, Raquel Seruca and Miguel Urioste
Cancers 2021, 13(17), 4359; https://doi.org/10.3390/cancers13174359 - 28 Aug 2021
Cited by 9 | Viewed by 2978
Abstract
E-cadherin, encoded by CDH1, is an essential molecule for epithelial homeostasis, whose loss or aberrant expression results in disturbed cell–cell adhesion, increased cell invasion and metastasis. Carriers of CDH1 germline mutations have a high risk of developing diffuse gastric cancer and lobular [...] Read more.
E-cadherin, encoded by CDH1, is an essential molecule for epithelial homeostasis, whose loss or aberrant expression results in disturbed cell–cell adhesion, increased cell invasion and metastasis. Carriers of CDH1 germline mutations have a high risk of developing diffuse gastric cancer and lobular breast cancer, associated with the cancer syndrome Hereditary Diffuse Gastric Cancer (HDGC). The ubiquitous availability of cancer panels has led to the identification of an increasing amount of “incidental” CDH1 genetic variants that pose a serious clinical challenge. This has sparked intensive research aiming at an accurate classification of the variants and consequent validation of their clinical relevance. The present study addressed the significance of a novel CDH1 variant, G212E, identified in an unusually large pedigree displaying strong aggregation of diffuse gastric cancer. We undertook a comprehensive pipeline encompassing family data, in silico predictions, in vitro assays and in vivo strategies, which validated the deleterious phenotype induced by this genetic alteration. In particular, we demonstrated that the G212E variant affects the stability and localization, as well as the adhesive and anti-invasive functions of E-cadherin, triggering epithelial disruption and disorganization. Our findings illustrate the clinical implication of a complementary approach for effective variant categorization and patient management. Full article
(This article belongs to the Special Issue E-cadherin Mutations in Cancer)
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Review

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8 pages, 581 KiB  
Review
Frequency of CDH1 Germline Mutations in Non-Gastric Cancers
by Giulia Massari, Francesca Magnoni, Giorgio Favia, Nickolas Peradze, Paolo Veronesi, Carlo La Vecchia and Giovanni Corso
Cancers 2021, 13(10), 2321; https://doi.org/10.3390/cancers13102321 - 12 May 2021
Cited by 13 | Viewed by 2847
Abstract
Hereditary Diffuse Gastric Cancer (HDGC) is a complex inherited syndrome caused by CDH1 germline mutations. DGC is the hallmark cancer of this genetic predisposition, but several other cancers are associated with these CDH1 mutations. In this review, we revised all studies reporting CDH1 [...] Read more.
Hereditary Diffuse Gastric Cancer (HDGC) is a complex inherited syndrome caused by CDH1 germline mutations. DGC is the hallmark cancer of this genetic predisposition, but several other cancers are associated with these CDH1 mutations. In this review, we revised all studies reporting CDH1 mutations in non-GC patients. The selected studies included: (a) families aggregating with GC and other cancers, both, and (b) families presenting only non-gastric tumors association. Among non-gastric tumors, our results show that CDH1 mutations are most frequently identified in breast cancer. The frequency of missense mutations is higher in the non-GC group, as the age at diagnosis in this group. Moreover, the predominant CDH1 mutation affects the extracellular domain. Our data suggest that CDH1 genetic testing should be considered also in other cancers, especially breast tumors. Full article
(This article belongs to the Special Issue E-cadherin Mutations in Cancer)
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Other

16 pages, 2114 KiB  
Systematic Review
Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review
by Giovanni Corso, Federica Corso, Federica Bellerba, Patrícia Carneiro, Susana Seixas, Antonio Cioffi, Carlo La Vecchia, Francesca Magnoni, Bernardo Bonanni, Paolo Veronesi, Sara Gandini and Joana Figueiredo
Cancers 2021, 13(6), 1269; https://doi.org/10.3390/cancers13061269 - 12 Mar 2021
Cited by 26 | Viewed by 3190
Abstract
Hereditary diffuse gastric cancer (HDGC) is a complex and multifactorial inherited cancer predisposition syndrome caused by CDH1 germline mutations. Nevertheless, current CDH1 genetic screening recommendations disregard an unbalanced worldwide distribution of CDH1 variants, impacting testing efficacy and patient management. In this systematic review, [...] Read more.
Hereditary diffuse gastric cancer (HDGC) is a complex and multifactorial inherited cancer predisposition syndrome caused by CDH1 germline mutations. Nevertheless, current CDH1 genetic screening recommendations disregard an unbalanced worldwide distribution of CDH1 variants, impacting testing efficacy and patient management. In this systematic review, we collected and analyzed all studies describing CDH1 variants in gastric cancer patients originating from both high- and low-prevalence countries. Selected studies were categorized as family study, series study, and unknown study, according to the implementation of HDGC clinical criteria for genetic testing. Our results indicate that CDH1 mutations are more frequently identified in gastric cancer low-incidence countries, and in the family study group that encompasses cases fulfilling criteria. Considering the type of CDH1 alterations, we verified that the relative frequency of mutation types varies within study groups and geographical areas. In the series study, the missense variant frequency is higher in high-incidence areas of gastric cancer, when compared with non-missense mutations. However, application of variant scoring for putative relevance led to a strong reduction of CDH1 variants conferring increased risk of gastric cancer. Herein, we demonstrate that criteria for CDH1 genetic screening are critical for identification of individuals carrying mutations with clinical significance. Further, we propose that future guidelines for testing should consider GC incidence across geographical regions for improved surveillance programs and early diagnosis of disease. Full article
(This article belongs to the Special Issue E-cadherin Mutations in Cancer)
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