Familial gastric cancer: genetic susceptibility, pathology, and implications for management
Familial gastric cancer comprises at least three major syndromes: hereditary diffuse gastric
cancer, gastric adenocarcinoma and proximal polyposis of the stomach, and familial …
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 …
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 …
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 …
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
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 …
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 …
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 …
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
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 …
(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 …
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 …
biomolecules. It is vital to look at these interactions in a cellular environment if we want to …