Associated Papers
Morphological, immunohistochemical and molecular analysis of follicular dendritic cell sarcomas: L1CAM as a new diagnostic marker.
Schelbert S et al.
Histopathology, 2025
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Deciphering DNA repair gene mutational landscape in uterine corpus endometrial carcinoma patients using next generation sequencing.
Lou J et al.
American Journal of Cancer Research, 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
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.
Tarawneh TS et al.
Cancers, 2022
CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.
Ben Aissa-Haj J et al.
Genes, 2022
PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients.
Dansonka-Mieszkowska A et al.
Plos One, 2022
Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.
Mittal A et al.
Ecancermedicalscience, 2022
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.
Corso G et al.
Cancers, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Genotyping data of routinely processed matched primary/metastatic tumor samples.
Kotoula V et al.
Data in Brief, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 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
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Characterizing temporal genomic heterogeneity in pediatric low-grade gliomas.
Lazow MA et al.
Acta Neuropathologica Communications, 2020
Overview on new progress of hereditary diffuse gastric cancer with CDH1 variants.
Hu MN et al.
Tumori, 2020
Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing.
Jiménez KM et al.
Pregnancy Hypertension, 2020
Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA.
Laissue P et al.
Current Hypertension Reports, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.
Mandelker D et al.
Jnci Cancer Spectrum, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K et al.
Human Mutation, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype.
Caggiari L et al.
International Journal of Molecular Sciences, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Roles for E-cadherin cell surface regulation in cancer.
Petrova YI et al.
Molecular Biology of the Cell, 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
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S et al.
Jama Oncology, 2015
Genomic profile analysis of diffuse-type gastric cancers.
Lee YS et al.
Genome Biology, 2014
Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
Heitzer E et al.
Bmc Medical Genetics, 2013
Identification and characterization of CDH1 germline variants in sporadic gastric cancer patients and in individuals at risk of gastric cancer.
Garziera M et al.
Plos One, 2013