The keratin 17/YAP/IL6 axis contributes to E-cadherin loss and aggressiveness of diffuse gastric cancer

Oncogene ◽  
2021 ◽  
Author(s):  
Mengjie Li ◽  
Xianping Rao ◽  
Yun Cui ◽  
Lu Zhang ◽  
Xiang Li ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Diffuse Gastric Cancer ◽  
Keratin 17 ◽  
E Cadherin

scholarly journals Clinical spectrum and pleiotropic nature of CDH1 germline mutations

2019 ◽  
Vol 56 (4) ◽  
pp. 199-208 ◽  
Author(s):  
Joana Figueiredo ◽  
Soraia Melo ◽  
Patrícia Carneiro ◽  
Ana Margarida Moreira ◽  
Maria Sofia Fernandes ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gastric Cancer ◽  
Genetic Alterations ◽  
Tumour Suppressor Gene ◽  
Diffuse Gastric Cancer ◽  
Loss Of Function ◽  
Lobular Breast Cancer ◽  
Cancer Syndrome ◽  
Risk Of Cancer ◽  
E Cadherin

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 architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour suppressor gene, and it is well established that CDH1 genetic alterations cause diffuse gastric cancer and lobular breast cancer—the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating that CDH1 mutations can be associated with lobular breast cancer and/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer. To date, no genotype–phenotype correlations have been observed. Remarkably, there are reports of mutations affecting the same nucleotide but inducing distinct clinical outcomes. In this review, we bring together a comprehensive analysis of CDH1-associated disorders and germline alterations found in each trait, providing important insights into the biological mechanisms underlying E-cadherin’s pleiotropic effects. Ultimately, this knowledge will impact genetic counselling and will be relevant to the assessment of risk of cancer development or congenital malformations in CDH1 mutation carriers.

scholarly journals Family’s History Based on the CDH1 Germline Variant (c.360delG) and a Suspected Hereditary Gastric Cancer Form

2020 ◽  
Vol 21 (14) ◽  
pp. 4904
Author(s):  
Laura Caggiari ◽  
Mara Fornasarig ◽  
Mariangela De Zorzi ◽  
Renato Cannizzaro ◽  
Agostino Steffan ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Cancer Susceptibility ◽  
Stop Codon ◽  
Case Reports ◽  
Premature Stop Codon ◽  
Diffuse Gastric Cancer ◽  
Cancer Syndrome ◽  
The Family ◽  
Hereditary Gastric Cancer ◽  
E Cadherin

Hereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome caused by germline pathogenic variant in CDH1, the gene encoding E-cadherin. The germline loss-of-function variants are the only proven cause of the cancer syndrome HDGC, occurring in approximately 10–18% of cases and representing a helpful tool in genetic counseling. The current case reports the family history based on a CDH1 gene variant, c.360delG, p.His121Thr in a suspected family for hereditary gastric cancer form. This frameshift deletion generates a premature stop codon at the amino acid 214, which leads to a truncated E-cadherin protein detecting it as a deleterious variant. The present study expands the mutational spectra of the family with the CDH1 variant. Our results highlight the clinical impact of the reported CDH1 variant running in gastric cancer families.

Prognostic Analysis of E-Cadherin Gene Promoter Hypermethylation in Patients with Surgically Resected, Node-Positive, Diffuse Gastric Cancer

2004 ◽  
Vol 10 (8) ◽  
pp. 2784-2789 ◽  
Author(s):  
Francesco Graziano ◽  
Federica Arduini ◽  
Annamaria Ruzzo ◽  
Italo Bearzi ◽  
Bostjan Humar ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Gene Promoter ◽  
Promoter Hypermethylation ◽  
Diffuse Gastric Cancer ◽  
Node Positive ◽  
Prognostic Analysis ◽  
Resected Node ◽  
E Cadherin

scholarly journals Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer

Cancer ◽  
2011 ◽  
Vol 117 (14) ◽  
pp. 3112-3117 ◽  
Author(s):  
Ze Ming Xie ◽  
Lai Sheng Li ◽  
Claire Laquet ◽  
Frédérique Penault-Llorca ◽  
Nancy Uhrhammer ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Breast Carcinoma ◽  
Germline Mutations ◽  
Diffuse Gastric Cancer ◽  
Lobular Breast Carcinoma ◽  
E Cadherin

Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening

2004 ◽  
Vol 203 (2) ◽  
pp. 681-687 ◽  
Author(s):  
Fátima Carneiro ◽  
David G Huntsman ◽  
Thomas C Smyrk ◽  
David A Owen ◽  
Raquel Seruca ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Early Development ◽  
Diffuse Gastric Cancer ◽  
Patient Screening ◽  
Mutation Carriers ◽  
E Cadherin

Hereditary diffuse gastric cancer associated with E-cadherin mutation: penetrance after all

2008 ◽  
Vol 20 (12) ◽  
pp. 1205-1213 ◽  
Author(s):  
Daniel R. Gaya ◽  
Robert C. Stuart ◽  
James J. Going ◽  
Adrian J. Stanley
Keyword(s):  
Gastric Cancer ◽  
Hereditary Diffuse Gastric Cancer ◽  
Diffuse Gastric Cancer ◽  
E Cadherin
Sign in / Sign up

Export Citation Format

Share Document