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 …

E‐cadherin deregulation in breast cancer

G Corso, J Figueiredo, SP De Angelis… - Journal of Cellular …, 2020 - Wiley Online Library
E‐cadherin protein (CDH1 gene) integrity is fundamental to the process of epithelial
polarization and differentiation. Deregulation of the E‐cadherin function plays a crucial role …

[HTML][HTML] Genomic landscape and genetic heterogeneity in gastric adenocarcinoma revealed by whole-genome sequencing

SS Wong, KM Kim, JC Ting, K Yu, J Fu, S Liu… - Nature …, 2014 - nature.com
Gastric cancer (GC) is the second most common cause of cancer-related deaths. It is known
to be a heterogeneous disease with several molecular and histological subtypes. Here we …

[HTML][HTML] Clinical spectrum and pleiotropic nature of CDH1 germline mutations

J Figueiredo, S Melo, P Carneiro, AM Moreira… - Journal of Medical …, 2019 - jmg.bmj.com
CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is
involved in major cellular processes such as embryogenesis and maintenance of tissue …

[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 …

[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 …

Analysis of protein interactions in situ by proximity ligation assays

B Koos, L Andersson, CM Clausson, K Grannas… - … Dimensional Single Cell …, 2014 - Springer
The fate of the cell is governed by interactions among proteins, nucleic acids, and other
biomolecules. It is vital to look at these interactions in a cellular environment if we want to …