Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
A high proportion of germline variants in pediatric chronic myeloid leukemia.
Krumbholz M et al.
Molecular Cancer, 2024
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
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing.
Nemtsova MV et al.
Scientific Reports, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.
Ricci MT et al.
Tumori, 2019
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
Figueiredo J et al.
Journal of Medical Genetics, 2019
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K et al.
Human Mutation, 2018
Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.
Cho HG et al.
Jci Insight, 2018
Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.
Corso G et al.
Journal of Medical Genetics, 2018
Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer.
Corso G et al.
Archives of Gynecology and Obstetrics, 2018
A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.
Sun JX et al.
Plos Computational Biology, 2018
CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.
Stuebs F et al.
Archives of Gynecology and Obstetrics, 2018
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
CDH1/E-cadherin and solid tumors. An updated gene-disease association analysis using bioinformatics tools.
Abascal MF et al.
Computational Biology and Chemistry, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.
Simões-Correia J et al.
Plos One, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Dysregulation of the E-cadherin/catenin complex by irreversible mutations in human carcinomas.
Berx G et al.
Cell Adhesion and Communication, 1998