Familial gastric cancer: genetic susceptibility, pathology, and implications for management

C Oliveira, H Pinheiro, J Figueiredo, R Seruca… - The Lancet …, 2015 - thelancet.com
Familial gastric cancer comprises at least three major syndromes: hereditary diffuse gastric
cancer, gastric adenocarcinoma and proximal polyposis of the stomach, and familial …

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

RS van der Post, IP Vogelaar, F Carneiro… - Journal of medical …, 2015 - jmg.bmj.com
Germline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and
lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genetic …

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

K Lee, K Krempely, ME Roberts, MJ Anderson… - Human …, 2018 - Wiley Online Library
The variant curation guidelines published in 2015 by the American College of Medical
Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) provided …

Resolving the molecular mechanism of cadherin catch bond formation

K Manibog, H Li, S Rakshit, S Sivasankar - Nature communications, 2014 - nature.com
Classical cadherin Ca2+-dependent cell–cell adhesion proteins play key roles in
embryogenesis and in maintaining tissue integrity. Cadherins mediate robust adhesion by …

[HTML][HTML] Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status

EZ Mi, EZ Mi, M di Pietro, M O'Donovan… - Gastrointestinal …, 2018 - Elsevier
Background and Aims Hereditary diffuse gastric cancer (HDGC) accounts for 1% of gastric
cancer cases. For patients with a germline CDH1 mutation, risk-reducing gastrectomy is …

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

G Corso, J Figueiredo, C La Vecchia… - Journal of medical …, 2018 - jmg.bmj.com
Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer
(LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A …

Overview on the role of E-cadherin in gastric cancer: dysregulation and clinical implications

H Zhao, H Hu, B Chen, W Xu, J Zhao… - Frontiers in Molecular …, 2021 - frontiersin.org
Gastric cancer is the fifth most common cancer and the third most common cause of cancer
death all over the world. E-cadherin encoded by human CDH1 gene plays important roles in …

[HTML][HTML] E-cadherin dysfunction in gastric cancer-Cellular consequences, clinical applications and open questions

P Carneiro, MS Fernandes, J Figueiredo, J Caldeira… - FEBS letters, 2012 - Elsevier
E-cadherin plays a major role in cell–cell adhesion and inactivating germline mutations in its
encoding gene predispose to hereditary diffuse gastric cancer. Evidence indicates that aside …

Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: a multidisciplinary clinical review

G Corso, G Montagna, J Figueiredo, C La Vecchia… - Cancers, 2020 - mdpi.com
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 …

Accuracy of hereditary diffuse gastric cancer testing criteria and outcomes in patients with a germline mutation in CDH1

RS Van Der Post, IP Vogelaar, P Manders… - Gastroenterology, 2015 - Elsevier
Background & Aims Germline mutations in the cadherin 1, type 1, E-cadherin gene (CDH1)
cause a predisposition to gastric cancer. We evaluated the ability of the internationally …