Associated Papers
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
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
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
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
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
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
Kang SS et al.
Experimental & Molecular Medicine, 2012
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
E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.
Simões-Correia J et al.
Plos One, 2012
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
Enhanced activation of epidermal growth factor receptor caused by tumor-derived E-cadherin mutations.
Bremm A et al.
Cancer Research, 2008
A short guide to hereditary diffuse gastric cancer.
Guilford P et al.
Hereditary Cancer in Clinical Practice, 2007
EGFR regulates RhoA-GTP dependent cell motility in E-cadherin mutant cells.
Mateus AR et al.
Human Molecular Genetics, 2007
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
Kaurah P et al.
Jama, 2007
Genetics, pathology, and clinics of familial gastric cancer.
Oliveira C et al.
International Journal of Surgical Pathology, 2006
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.
Brooks-Wilson AR et al.
Journal of Medical Genetics, 2004
Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients.
Keller G et al.
Journal of Medical Genetics, 2004
Genetic screening for familial gastric cancer.
Oliveira C et al.
Hereditary Cancer in Clinical Practice, 2004