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
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.
van Opijnen MP et al.
Npj Genomic Medicine, 2025
Qualitative and Quantitative Aspects of Discrepancies between Various Methods for Microsatellite Instability Detection.
Staninova-Stojovska M et al.
Balkan Journal of Medical Genetics : Bjmg, 2025
Early-stage endometrioid carcinoma with MSH6 protein deficiency: pitfalls in the diagnostic interpretation of microsatellite instability.
Wang C et al.
Frontiers in Oncology, 2025
Molecular analysis of three DNA mismatch repair protein variants in Chinese families with suspected Lynch syndrome.
Li J et al.
Frontiers in Medicine, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Clinical features and impact of p53 status on sporadic mismatch repair deficiency and Lynch syndrome in uterine cancer.
Kato MK et al.
Cancer Science, 2024
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Roht L et al.
Cancers, 2023
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.
Wen H et al.
Jama Network Open, 2023
Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.
Lee K et al.
Scientific Reports, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Adam F et al.
Bmc Medical Genomics, 2023
A retrospective study of consistency between immunohistochemistry and polymerase chain reaction of microsatellite instability in endometrial cancer.
Wang C et al.
Peerj, 2023
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
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.
Kim H et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.
Roht L et al.
Frontiers in Genetics, 2022
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Martone S et al.
Frontiers in Genetics, 2022
Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.
Liu J et al.
Frontiers in Oncology, 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.
Fountzilas E et al.
Cancers, 2021
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
Mizukami K et al.
Ebiomedicine, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.
de Angelis de Carvalho N et al.
Cancers, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.
Evans DR et al.
Human Mutation, 2018
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Haraldsdottir S et al.
Nature Communications, 2017
Teenage colorectal polyposis and cancer may be caused by constitutional mismatch repair deficiency (CMMRD).
Soplepmann J et al.
Acta Oncologica (stockholm, Sweden), 2016
Lynch Syndrome Screening in the Gynecologic Tract: Current State of the Art.
Mills AM et al.
The American Journal of Surgical Pathology, 2016
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.
Rubio I et al.
Oncology, 2016
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
Hansen MF et al.
Molecular Genetics & Genomic Medicine, 2014
Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer--the DNA microarray assay.
Stojcev Z et al.
Acta Biochimica Polonica, 2013
Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.
You JF et al.
British Journal of Cancer, 2010
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
Sjursen W et al.
Journal of Medical Genetics, 2010
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.
van der Post RS et al.
Journal of Medical Genetics, 2010
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
Nilbert M et al.
Familial Cancer, 2009
Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum.
Nilbert M et al.
Familial Cancer, 2009
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
Overbeek LI et al.
British Journal of Cancer, 2007