Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.
Munteanu CV et al.
Oncology Reviews, 2025
Puzzling phenomenon: adult-onset cancer predisposition and pediatric cancer.
Kuhlen M et al.
Trends in Cancer, 2024
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
Bouras A et al.
Genes, Chromosomes & Cancer, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Isidro RA et al.
Frontiers in Oncology, 2023
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E et al.
Biomolecules, 2022
Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.
Yang RK et al.
Cancers, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.
Li Y et al.
Cancer Biology & Medicine, 2022
Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors.
Berrino E et al.
Npj Precision Oncology, 2022
Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.
Kryklyva V et al.
The Journal of Pathology. Clinical Research, 2022
Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.
Levine MD et al.
Jco Precision Oncology, 2021
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
Lincoln SE et al.
Jama Network Open, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.
Miller DB et al.
Frontiers in Genetics, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.
Xu T et al.
Frontiers in Oncology, 2020
Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.
Petljak M et al.
Cell, 2019
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
Gardner SA et al.
Hereditary Cancer in Clinical Practice, 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
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
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
van der Klift HM et al.
Molecular Genetics & Genomic Medicine, 2015
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
ten Broeke SW et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC et al.
European Journal of Cancer (oxford, England : 1990), 2011
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L et al.
Gastroenterology, 2008
Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.
Agiannitopoulos K et al.
Cancer Genomics & Proteomics, 0