Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R796insFs
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CDH1

NM_004360.5:p.R796insFs

Associated Papers

Hereditary diffuse gastric cancer: the evolution of a cancer syndrome.

Decourtye-Espiard L et al.

Journal of the Royal Society of New Zealand, 2025

Clinical Implication of CDH1 Mutations in Genetic Testing for Diffuse Gastric Cancer Patients.

Corso G et al.

Oncology, 2024

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

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

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

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

Corso G et al.

Cancers, 2021

33809393 (PubMed )
Supplement: cancers-13-01269-s001.pdf

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

Selvanathan A et al.

Genes, 2020

32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List

E-cadherin germline mutations in Māori population.

De Scalzi AM et al.

Future Oncology (london, England), 2019

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

[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

CDH1 germline mutation in hereditary gastric carcinoma.

Wang HD et al.

World Journal of Gastroenterology, 2004

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

Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?

Chun YS et al.

Cancer, 2001

Familial gastric cancer: overview and guidelines for management.

Caldas C et al.

Journal of Medical Genetics, 1999

Mutations of the human E-cadherin (CDH1) gene.

Berx G et al.

Human Mutation, 1998

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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."