Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.T379T
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CDH1

NM_004360.5:p.T379T

Associated Papers

Investigating the genetic landscape of cancer in Jordan: a step toward personalized care.

Al-Eitan LN et al.

European Journal of Medical Research, 2025

Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer.

Agaoglu NB et al.

American Journal of Medical Genetics. Part A, 2025

CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.

Corso G et al.

Jama Network Open, 2024

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

Chromoendoscopy in Combination with Random Biopsies for Patients with Pathogenic CDH1 Mutations Undergoing Endoscopic Surveillance.

Ruf B et al.

Journal of Gastrointestinal Cancer, 2023

Current advances in understanding the molecular profile of hereditary diffuse gastric cancer and its clinical implications.

Lim HJ et al.

Journal of Experimental & Clinical Cancer Research : Cr, 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

Short and long-term outcomes of prophylactic total gastrectomy in 54 consecutive individuals with germline pathogenic mutations in the CDH1 gene.

Stillman MD et al.

Journal of Surgical Oncology, 2022

CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome.

Corso G et al.

Journal of Medical Genetics, 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

CDH1 Gene Mutation Hereditary Diffuse Gastric Cancer Outcomes: Analysis of a Large Cohort, Systematic Review of Endoscopic Surveillance, and Secondary Cancer Risk Postulation.

Benesch MGK et al.

Cancers, 2021

34073553 (PubMed )
Supplement: cancers-13-02622-s001.zip › cancers-1207957-supplementary.pdf

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

Massari G et al.

Cancers, 2021

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

Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.

Marwitz T et al.

Cancers, 2020

First report of a Mexican family with mutation in the CDH1 gene.

Martínez Valenzuela C et al.

Molecular Genetics & Genomic Medicine, 2020

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

Hu MN et al.

Tumori, 2020

Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.

Ji K et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.

Niemeyer E et al.

Bmc Gastroenterology, 2020

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

Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.

Aronson M et al.

Current Oncology (toronto, Ont.), 2020

Gene mutations distinguishing gastric from colorectal and esophageal adenocarcinomas.

Hoang T et al.

Journal of Gastrointestinal Oncology, 2020

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.

Tedaldi G et al.

Cancers, 2019

Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.

Roberts ME et al.

Jama Oncology, 2019

Hereditary gastric cancer: what's new? Update 2013-2018.

van der Post RS et al.

Familial Cancer, 2019

A pan-cancer analysis of synonymous mutations.

Sharma Y et al.

Nature Communications, 2019

31189880 (PubMed )
Supplement: 41467_2019_10489_MOESM5_ESM.xlsx › Data_S3_ClinVar___Cancer

The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.

Schubert S et al.

International Journal of Cancer, 2019

Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).

Lo W et al.

Journal of Medical Genetics, 2019

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

Obermair F et al.

Familial Cancer, 2019

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J et al.

Journal of Medical Genetics, 2019

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

Lee K et al.

Human Mutation, 2018

Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk.

Li D et al.

Clinical and Translational Medicine, 2018

Germline mutations in hereditary diffuse gastric cancer.

Zhang H et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2018

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Moles-Fernández A et al.

Frontiers in Genetics, 2018

30233647 (PubMed )
Supplement: Table_1.XLSX › Supplem_Table_6

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

Crawford B et al.

Breast Cancer Research and Treatment, 2017

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients.

Hüneburg R et al.

Endoscopy International Open, 2016

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Brito LA et al.

Human Mutation, 2015

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.

Benusiglio PR et al.

Journal of Medical Genetics, 2013

E-cadherin dysfunction in gastric cancer--cellular consequences, clinical applications and open questions.

Carneiro P et al.

Febs Letters, 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

The identification and management of hereditary diffuse gastric cancer in a large Jordanian family.

Lynch HT et al.

Familial Cancer, 2011

Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer.

Xie ZM et al.

Cancer, 2011

[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

Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression.

Oliveira C et al.

Gastroenterology, 2009

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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."