Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.P126delFs
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CDH1

NM_004360.5:p.P126delFs

Associated Papers

Germline Genetic Variants in Cancer Predisposition Genes in Patients From Latin America and the Caribbean.

Wegman-Ostrosky T et al.

Jco Global Oncology, 2025

Frequency of CDH1, CTNNA1 and CTNND1 Germline Variants in Families with Diffuse and Mixed Gastric Cancer.

Guerra J et al.

Cancers, 2023

CDH1 mutations recurrence and global clustering in genetically tested families with hereditary diffuse gastric cancer syndrome: results from a systematic study.

Corso G et al.

Familial Cancer, 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

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Do MD et al.

Asia-pacific Journal of Clinical Oncology, 2022

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU638

Mesonephric-like Endometrial Carcinoma: Results From Immunohistochemical Screening of 300 Endometrial Carcinomas and Carcinosarcomas for This Often Overlooked and Potentially Aggressive Entity.

Mills AM et al.

The American Journal of Surgical Pathology, 2022

CDH1 germline mutations in families with hereditary lobular breast cancer.

Girardi A et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2022

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s007.xlsx › Table_S3B

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

Predicting Pathogenicity of CDH1 Gene Variants in Patients with Early-onset Diffuse Gastric Cancer from Western Mexico.

García-Ruvalcaba A et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2021

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

Martínez Valenzuela C et al.

Molecular Genetics & Genomic Medicine, 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

Gene mutations distinguishing gastric from colorectal and esophageal adenocarcinomas.

Hoang T et al.

Journal of Gastrointestinal Oncology, 2020

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

CDH1/E-cadherin and solid tumors. An updated gene-disease association analysis using bioinformatics tools.

Abascal MF et al.

Computational Biology and Chemistry, 2016

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

van der Post RS et al.

Gastroenterology, 2015

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

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

Kaurah P et al.

Jama, 2007

Molecular analysis of primary gastric cancer, corresponding xenografts, and 2 novel gastric carcinoma cell lines reveals novel alterations in gastric carcinogenesis.

Milne AN et al.

Human Pathology, 2007

Genetics, pathology, and clinics of familial gastric cancer.

Oliveira C et al.

International Journal of Surgical Pathology, 2006

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

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

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

CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk.

Lei H et al.

International Journal of Cancer, 2002

Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families.

Pharoah PD et al.

Gastroenterology, 2001

Familial gastric cancer: overview and guidelines for management.

Caldas C et al.

Journal of Medical Genetics, 1999

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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."