Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R732Q
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CDH1

NM_004360.5:p.R732Q

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China.

Wang Z et al.

Journal of Medical Genetics, 2026

Performance of upper gastrointestinal endoscopy in CDH1 germline pathogenic variant carriers: A multicenter study.

Castillo-Iturra J et al.

International Journal of Cancer, 2025

40650379 (PubMed )
Supplement: IJC-157-2550-s001.pdf

Metastatic mismatch repair deficient oesophageal squamous cell carcinoma leading to diagnosis of Lynch syndrome with a complete response to nivolumab treatment.

Wang HH et al.

Virchows Archiv : an International Journal of Pathology, 2025

MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.

Miller AR et al.

Bmc Cancer, 2025

40849662 (PubMed )
Supplement: 12885_2025_14711_MOESM2_ESM.xlsx › TableS6

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Genomic characterization and detection of potential therapeutic targets for peritoneal mesothelioma in current practice.

van Kooten JP et al.

Clinical and Experimental Medicine, 2024

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

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

Corso G et al.

Oncology, 2024

Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.

Lepage M et al.

Genes, 2023

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

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

E-cadherin is a biomarker for ferroptosis sensitivity in diffuse gastric cancer.

Minikes AM et al.

Oncogene, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

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

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

CDH1 pathogenic variants and cancer risk in an unselected patient population.

Bar-Mashiah A et al.

Familial Cancer, 2022

CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.

Adib E et al.

British Journal of Cancer, 2022

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

The Genomic Landscape of Lobular Breast Cancer.

McCart Reed AE et al.

Cancers, 2021

33919581 (PubMed )
Supplement: cancers-13-01950-s001.zip › cancers-1163927-supplementary_tables.xlsx › Table_S1_WES

Evaluation of confocal laser endomicroscopy for detection of occult gastric carcinoma in CDH1 variant carriers.

Schueler SA et al.

Journal of Gastrointestinal Oncology, 2021

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

Corso G et al.

Cancers, 2021

Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.

Riedlinger GM et al.

Breast Cancer Research : Bcr, 2021

33441174 (PubMed )
Supplement: 13058_2020_1385_MOESM2_ESM.xls › Sheet1

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.

Tran VT et al.

Frontiers in Oncology, 2021

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

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria.

Xicola RM et al.

Journal of Medical Genetics, 2019

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

Roberts ME et al.

Jama Oncology, 2019

E-cadherin germline mutations in Māori population.

De Scalzi AM et al.

Future Oncology (london, England), 2019

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.

Hakkaart C et al.

Familial Cancer, 2019

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

Lee K et al.

Human Mutation, 2018

Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.

Isaacsson Velho P et al.

The Prostate, 2018

Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Cho SY et al.

Gastroenterology, 2017

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

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
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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."