Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.M1insFs
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CDH1

NM_004360.5:p.M1insFs

Associated Papers

Colonoscopy findings in CDH1 carriers from a multicenter international study.

Chatterjee A et al.

Familial Cancer, 2025

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_2.

Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy.

Zakaria NH et al.

Human Genomics, 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

Penetrance of Gastric Adenocarcinoma Susceptibility Genes: A Systematic Review.

Hosseini S et al.

Annals of Surgical Oncology, 2023

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Garcia-Pelaez J et al.

The Lancet. Oncology, 2023

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.

Espinel W et al.

Cancers, 2022

35626031 (PubMed )
Supplement: cancers-14-02426-s001.zip › cancers-1700686-supplementary.pdf

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.

Förster A et al.

Acta Neuropathologica, 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

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_5

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

Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.

Adaniel C et al.

Journal of Global Oncology, 2019

Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.

Mi EZ et al.

Gastrointestinal Endoscopy, 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

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

Metastatic tumor evolution and organoid modeling implicate TGFBR2 as a cancer driver in diffuse gastric cancer.

Nadauld LD et al.

Genome Biology, 2014

The impact of prophylactic total gastrectomy on health-related quality of life: a prospective cohort study.

Worster E et al.

Annals of Surgery, 2014

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study.

Bardram L et al.

Familial Cancer, 2014

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

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

Kluijt I et al.

International Journal of Cancer, 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

A prospective study of total gastrectomy for CDH1-positive hereditary diffuse gastric cancer.

Chen Y et al.

Annals of Surgical Oncology, 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

Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications.

Rogers WM et al.

The American Journal of Surgical Pathology, 2008

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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."