Hereditary diffuse gastric cancer: updated clinical practice guidelines

VR Blair, M McLeod, F Carneiro, DG Coit… - The Lancet …, 2020 - thelancet.com
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is
characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is …

The immune microenvironment in gastric adenocarcinoma

Y Zavros, JL Merchant - Nature Reviews Gastroenterology & …, 2022 - nature.com
Like most solid tumours, the microenvironment of epithelial-derived gastric adenocarcinoma
(GAC) consists of a variety of stromal cell types, including fibroblasts, and neuronal …

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 …

Comparison of CDH1 penetrance estimates in clinically ascertained families vs families ascertained for multiple gastric cancers

ME Roberts, JMO Ranola, ML Marshall… - JAMA …, 2019 - jamanetwork.com
Importance CDH1pathogenic variants have been estimated to confer a 40% to 70% and
56% to 83% lifetime risk for gastric cancer in men and women, respectively. These are likely …

Hereditary breast cancer: syndromes, tumour pathology and molecular testing

A Sokolova, KJ Johnstone, AE McCart Reed… - …, 2023 - Wiley Online Library
Hereditary factors account for a significant proportion of breast cancer risk. Approximately
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …

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 …

Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria

RM Xicola, S Li, N Rodriguez, P Reinecke… - Journal of medical …, 2019 - jmg.bmj.com
Background The clinical phenotype of CDH1 pathogenic variant carriers has mostly been
studied in families that fulfil criteria of hereditary diffuse gastric cancer (HDGC). We aimed at …

[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 …

Hereditary diffuse gastric cancer

L Decourtye-Espiard, P Guilford - Gastroenterology, 2023 - Elsevier
Hereditary diffuse gastric cancer (HDGC) is a dominantly inherited cancer syndrome
characterized by a high incidence of diffuse gastric cancer (DGC) and lobular breast cancer …

Familial and hereditary gastric cancer, an overview

F Carneiro - Best Practice & Research Clinical Gastroenterology, 2022 - Elsevier
There are three major hereditable syndromes that affect primarily the stomach: hereditary
diffuse gastric cancer (HDGC), gastric adenocarcinoma and proximal polyposis of the …