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
The Changing Landscape of Hereditary Diffuse Gastric Cancer.
Vaessen C et al.
Journal of Gastric Cancer, 2026
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.
Nagy P et al.
International Journal of Molecular Sciences, 2024
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.
Privat M et al.
Human Mutation, 2024
The ECM and tissue architecture are major determinants of early invasion mediated by E-cadherin dysfunction.
Melo S et al.
Communications Biology, 2023
Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.
Pascual J et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
A comprehensive study on surveillance outcomes of a male population followed at a hereditary breast cancer high-risk consultation at a Portuguese tertiary hospital.
Oliveira MJ et al.
Journal of Cancer Research and Clinical Oncology, 2023
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant.
Fillman C et al.
Familial Cancer, 2023
Frequency of CDH1, CTNNA1 and CTNND1 Germline Variants in Families with Diffuse and Mixed Gastric Cancer.
Guerra J et al.
Cancers, 2023
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
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
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
E-cadherin is a biomarker for ferroptosis sensitivity in diffuse gastric cancer.
Minikes AM et al.
Oncogene, 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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
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
Differential Impacts on Tensional Homeostasis of Gastric Cancer Cells Due to Distinct Domain Variants of E-Cadherin.
Xu H et al.
Cancers, 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
Integrin β1 orchestrates the abnormal cell-matrix attachment and invasive behaviour of E-cadherin dysfunctional cells.
Figueiredo J et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2022
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.
Barbosa-Matos R et al.
Cancers, 2021
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
Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.
Massari G et al.
Cancers, 2021
The Genomic Landscape of Lobular Breast Cancer.
McCart Reed AE 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
Morphologic and molecular analysis of early-onset gastric cancer.
Setia N et al.
Cancer, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.
Abdel-Wahab R et al.
Scientific Reports, 2020
Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.
Marwitz T et al.
Cancers, 2020
Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.
Zivanovic Bujak A et al.
Plos 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
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K et al.
Human Mutation, 2018
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease.
Gullo I et al.
Gastrointestinal Endoscopy, 2018
Germline mutations in hereditary diffuse gastric cancer.
Zhang H et al.
Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer.
Melo S et al.
International Journal of Molecular Sciences, 2017