Associated Papers
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Hereditary diffuse gastric cancer: the evolution of a cancer syndrome.
Decourtye-Espiard L et al.
Journal of the Royal Society of New Zealand, 2025
Clinical Implication of CDH1 Mutations in Genetic Testing for Diffuse Gastric Cancer Patients.
Corso G et al.
Oncology, 2024
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
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
CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome.
Corso G et al.
Journal of Medical Genetics, 2022
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
Understanding protein structural changes for oncogenic missense variants.
Hernandez R et al.
Heliyon, 2021
Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.
Lang GT et al.
Nature Communications, 2020
E-Cadherin (CDH1 Gene) Germline Mutations in Gastric Cancer: Evolutions and Innovations.
Corso G et al.
Cancers, 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
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
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Karam R et al.
Jama Network Open, 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
Early Hereditary Diffuse Gastric Cancer (eHDGC) is Characterized by Subtle Genomic Instability and Active DNA Damage Response.
Nasri S et al.
Pathology Oncology Research : Por, 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
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
Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.
Busch EL et al.
Oncotarget, 2017
Transcriptomic profiling and quantitative high-throughput (qHTS) drug screening of CDH1 deficient hereditary diffuse gastric cancer (HDGC) cells identify treatment leads for familial gastric cancer.
Chen I et al.
Journal of Translational Medicine, 2017
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
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 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
E-cadherin deficiency initiates gastric signet-ring cell carcinoma in mice and man.
Humar B et al.
Cancer Research, 2009
The impact of cellular networks on disease comorbidity.
Park J et al.
Molecular Systems Biology, 2009
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
A model to infer the pathogenic significance of CDH1 germline missense variants.
Suriano G et al.
Journal of Molecular Medicine (berlin, Germany), 2006
Genetics, pathology, and clinics of familial gastric cancer.
Oliveira C et al.
International Journal of Surgical Pathology, 2006
Gastric cancer: new genetic developments.
Lynch HT et al.
Journal of Surgical Oncology, 2005
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
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
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