Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.D244G
Back to variants list

CDH1

NM_004360.5:p.D244G

Associated Papers

Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.

Rius A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

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

Corso G et al.

Cancers, 2021

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Selvanathan A et al.

Genes, 2020

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

Lee K et al.

Human Mutation, 2018

Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.

Busch EL et al.

Oncotarget, 2017

29156750 (PubMed )
Supplement: oncotarget-08-85680-s002.xlsx › CDH1

Roles for E-cadherin cell surface regulation in cancer.

Petrova YI et al.

Molecular Biology of the Cell, 2016

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

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 gastric cancer].

Wolf EM et al.

Der Pathologe, 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

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

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

Genetic screening for familial gastric cancer.

Oliveira C et al.

Hereditary Cancer in Clinical Practice, 2004

Genetic screening for hereditary diffuse gastric cancer.

Oliveira C et al.

Expert Review of Molecular Diagnostics, 2003

Preventive gastrectomy in patients with gastric cancer risk due to genetic alterations of the E-cadherin gene defect.

Schwarz A

Langenbeck's Archives of Surgery, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."