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

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

(2018) Leslie G Biesecker et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

(2018) Giovanni Corso et al.   JOURNAL OF MEDICAL GENETICS

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay

(2018) Suzette Farber-Katz et al.   Frontiers in Oncology

A central role for cadherin signaling in cancer

(2017) Antonis Kourtidis et al.   EXPERIMENTAL CELL RESEARCH

Evolution and diversity of cadherins and catenins

(2017) Ismail Sahin Gul et al.   EXPERIMENTAL CELL RESEARCH

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

Loss of E-Cadherin-Dependent Cell–Cell Adhesion and the Development and Progression of Cancer

(2017) Heather C. Bruner et al.   Cold Spring Harbor Perspectives in Biology

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

(2016) Kathryn B. Garber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site

(2016) Zarina Yelskaya et al.   PLoS One

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1

(2015) Rachel S. van der Post et al.   GASTROENTEROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germlineCDH1mutation carriers

(2015) Rachel S van der Post et al.   JOURNAL OF MEDICAL GENETICS

Familial gastric cancer: genetic susceptibility, pathology, and implications for management

(2015) Carla Oliveira et al.   LANCET ONCOLOGY

ClinGen and Genetic Testing

(2015)   NEW ENGLAND JOURNAL OF MEDICINE

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Hereditary Diffuse Gastric Cancer Syndrome

(2015) Samantha Hansford et al.   JAMA Oncology

Hereditary diffuse gastric cancer – Pathophysiology and clinical management

(2014) Hugo Pinheiro et al.   BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

(2014) Holly LaDuca et al.   GENETICS IN MEDICINE

Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC)

(2013) Carla Oliveira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Early-onset diffuse gastric cancer associated with a de novo large genomic deletion of CDH1 gene

(2013) Shinya Sugimoto et al.   Gastric Cancer

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

(2012) Joana Figueiredo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gastric cancer epidemiology and risk factors

(2012) Douglas E. Guggenheim et al.   JOURNAL OF SURGICAL ONCOLOGY

E-Cadherin Destabilization Accounts for the Pathogenicity of Missense Mutations in Hereditary Diffuse Gastric Cancer

(2012) Joana Simões-Correia et al.   PLoS One

De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer

(2011) MA Shah et al.   CLINICAL GENETICS

Hereditary gastric cancer

(2009) Carla Oliveira et al.   BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY

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

(2008) J. Simoes-Correia et al.   HUMAN MOLECULAR GENETICS

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers

(2008) R Karam et al.   ONCOGENE