Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Clinical, pathological, and comprehensive molecular analysis of the uterine clear cell carcinoma: a retrospective national study from TMRG and GINECO network.
Nigon E et al.
Journal of Translational Medicine, 2023
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome.
Pan S et al.
Frontiers in Oncology, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.
Lieb V et al.
Cells, 2022
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Rayner E et al.
Human Mutation, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
Lieb V et al.
Cells, 2021
Oncomine™ Comprehensive Assay v3 vs. Oncomine™ Comprehensive Assay Plus.
Vestergaard LK et al.
Cancers, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 2020
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.
Earl J et al.
Ebiomedicine, 2020
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E et al.
Scientific Reports, 2019
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
Tedaldi G et al.
Cancers, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer.
Liccardo R et al.
Cancer Management and Research, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Deletion of 11q in Neuroblastomas Drives Sensitivity to PARP Inhibition.
Sanmartín E et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.
Borras E et al.
Cancer Prevention Research (philadelphia, Pa.), 2017
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Haraldsdottir S et al.
Nature Communications, 2017
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
van der Klift HM et al.
Human Mutation, 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
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.
Mauer CB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
Hansen MF et al.
Molecular Genetics & Genomic Medicine, 2014
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Drost M et al.
Human Mutation, 2013
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
Vaughn CP et al.
Human Mutation, 2010
PMS2 involvement in patients suspected of Lynch syndrome.
Niessen RC et al.
Genes, Chromosomes & Cancer, 2009
Long-range PCR facilitates the identification of PMS2-specific mutations.
Clendenning M et al.
Human Mutation, 2006
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
Hendriks YM et al.
Gastroenterology, 2006