Associated Papers
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 2025
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.
O'Reilly RL et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Approaches for Lynch syndrome screening and characteristics of subtypes with mismatch repair deficiency in patients with colorectal carcinoma.
Feng X et al.
International Journal of Cancer, 2024
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
Villy MC et al.
Journal of the National Cancer Institute, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.
Cappadocia J et al.
Genetics in Medicine Open, 2024
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.
Fountzilas E et al.
International Journal of Molecular Sciences, 2023
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Roht L et al.
Cancers, 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
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
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Usui Y et al.
Cancer Science, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 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
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population.
Yamamoto A et al.
Japanese Journal of Clinical Oncology, 2021
Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.
Liao H et al.
American Journal of Cancer Research, 2021
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
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Molecular screening and clinicopathologic characteristics of Lynch-like syndrome in a Chinese colorectal cancer cohort.
Xu HX et al.
American Journal of Cancer Research, 2020
Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden.
Okkels H et al.
Genetic Testing and Molecular Biomarkers, 2019
Lynch-like syndrome is as frequent as Lynch syndrome in early-onset nonfamilial nonpolyposis colorectal cancer.
Antelo M et al.
International Journal of Cancer, 2019
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
Rohlin A et al.
Familial Cancer, 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
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.
Kohda M et al.
Familial Cancer, 2016
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 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
Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center.
Moline J et al.
Gynecologic Oncology, 2013
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
van der Klift HM et al.
Human Mutation, 2010
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L et al.
Gastroenterology, 2008