Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R749W
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CDH1

NM_004360.5:p.R749W

Associated Papers

Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion.

Teng CS et al.

The Journal of Cell Biology, 2026

41231213 (PubMed )
Supplement: jcb_202503070_tables2.xlsx › Sheet1

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

The ECM and tissue architecture are major determinants of early invasion mediated by E-cadherin dysfunction.

Melo S et al.

Communications Biology, 2023

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST8-CDH1

Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.

Jiménez-Rodríguez B et al.

International Journal of Molecular Sciences, 2022

Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.

Cerrato-Izaguirre D et al.

Genes & Diseases, 2022

Differential Impacts on Tensional Homeostasis of Gastric Cancer Cells Due to Distinct Domain Variants of E-Cadherin.

Xu H et al.

Cancers, 2022

Integrin β1 orchestrates the abnormal cell-matrix attachment and invasive behaviour of E-cadherin dysfunctional cells.

Figueiredo J et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2022

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.

Förster A et al.

Acta Neuropathologica, 2021

33929593 (PubMed )
Supplement: 401_2021_2307_MOESM1_ESM.pdf

Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.

Corso G et al.

Cancers, 2021

Overview on new progress of hereditary diffuse gastric cancer with CDH1 variants.

Hu MN et al.

Tumori, 2020

Gene mutations distinguishing gastric from colorectal and esophageal adenocarcinomas.

Hoang T et al.

Journal of Gastrointestinal Oncology, 2020

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S1_CDH1_A

Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

Guindalini RSC et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2019

Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.

Olivier M et al.

Plos One, 2019

30653559 (PubMed )
Supplement: pone.0210372.s001.xlsx › Table_A

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

Lee K et al.

Human Mutation, 2018

Quantification of topological features in cell meshes to explore E-cadherin dysfunction.

Mestre T et al.

Scientific Reports, 2016

Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

Sanches JM et al.

European Journal of Human Genetics : Ejhg, 2015

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.

Figueiredo J et al.

European Journal of Human Genetics : Ejhg, 2013

Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.

Corso G et al.

Bmc Cancer, 2012

Evidence that proteosome inhibitors and chemical chaperones can rescue the activity of retinol dehydrogenase 12 mutant T49M.

Lee SA et al.

Chemico-biological Interactions, 2011

ADP-ribosylation factor 6 mediates E-cadherin recovery by chemical chaperones.

Figueiredo J et al.

Plos One, 2011

[Hereditary gastric cancer].

Wolf EM et al.

Der Pathologe, 2010

Dynamic and static interactions between p120 catenin and E-cadherin regulate the stability of cell-cell adhesion.

Ishiyama N et al.

Cell, 2010

Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.

Guilford P et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2010

Hereditary diffuse gastric cancer.

Schrader K et al.

Cancer Treatment and Research, 2010

E-cadherin mutations and cell motility: a genotype-phenotype correlation.

Mateus AR et al.

Experimental Cell Research, 2009

Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer.

Simões-Correia J et al.

Human Molecular Genetics, 2008

A short guide to hereditary diffuse gastric cancer.

Guilford P et al.

Hereditary Cancer in Clinical Practice, 2007

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

Kaurah P et al.

Jama, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."