Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Mutational landscape of triple-negative breast cancer in African American women.
Yao S et al.
Nature Genetics, 2025
Surveillance Outcome and Genetic Findings in Individuals at High Risk of Pancreatic Cancer.
Rosner G et al.
Clinical and Translational Gastroenterology, 2024
High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.
Marcos González S et al.
Biomedicines, 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
Targeting de novo lipogenesis and the Lands cycle induces ferroptosis in KRAS-mutant lung cancer.
Bartolacci C et al.
Nature Communications, 2022
Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.
Cerrato-Izaguirre D et al.
Genes & Diseases, 2022
ATR Inhibitor AZD6738 (Ceralasertib) Exerts Antitumor Activity as a Monotherapy and in Combination with Chemotherapy and the PARP Inhibitor Olaparib.
Wilson Z et al.
Cancer Research, 2022
Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.
Corso G et al.
Cancers, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Hispanic/Latino Patients with Gastric Adenocarcinoma Have Distinct Molecular Profiles Including a High Rate of Germline CDH1 Variants.
Wang SC et al.
Cancer Research, 2020
Microsatellite Stable Colorectal Cancer With an Immunogenic Phenotype: Challenges in Diagnosis and Treatment.
Saller J et al.
Clinical Colorectal Cancer, 2020
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
da Costa E Silva Carvalho S et al.
Bmc Medical Genomics, 2020
Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.
Prieto-Potin I et al.
Peerj, 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
Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.
Guindalini RSC et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2019
High Frequency of ERBB2 Activating Mutations in Invasive Lobular Breast Carcinoma with Pleomorphic Features.
Rosa-Rosa JM et al.
Cancers, 2019
A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
de Souza Timoteo AR et al.
Breast Cancer Research and Treatment, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Roles for E-cadherin cell surface regulation in cancer.
Petrova YI et al.
Molecular Biology of the Cell, 2016
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal S et al.
Nature, 2016
CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).
El-Husny A et al.
Genetics and Molecular Biology, 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
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer.
Lajus TB et al.
Gene, 2015
International society for gastrointestinal hereditary tumours-InSiGHT.
Unknown Author
Familial Cancer, 2015
Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.
Hovelson DH et al.
Neoplasia (new York, N.y.), 2015
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S et al.
Jama Oncology, 2015
Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.
Pan CX et al.
Plos One, 2015
Genomic profile analysis of diffuse-type gastric cancers.
Lee YS et al.
Genome Biology, 2014
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
Leongamornlert D et al.
British Journal of Cancer, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.
Valente AL et al.
Hereditary Cancer in Clinical Practice, 2014
Abstracts of InSiGHT 5th Biennial Meeting. Pedigree, familial aspects of cancer and the Human Variome Project in conjunction with the COSA Familial Cancer Group. August 28-31, 2013.
Unknown Author
Familial Cancer, 2013
Novel mutations target distinct subgroups of medulloblastoma.
Robinson G et al.
Nature, 2012
High-throughput genotyping in osteosarcoma identifies multiple mutations in phosphoinositide-3-kinase and other oncogenes.
Choy E et al.
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
E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.
Simões-Correia J et al.
Plos One, 2012
Clinical effect of point mutations in myelodysplastic syndromes.
Bejar R et al.
The New England Journal of Medicine, 2011