Associated Papers
Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.
Mizukami K et al.
Communications Medicine, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.
Cheo SW et al.
Esmo Open, 2025
MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.
Kaczorowski M et al.
The Journal of Pathology. Clinical Research, 2025
Pathological diagnosis experience and literature review of four cases suspected Lynch-like syndrome.
Cheng B et al.
Frontiers in Oncology, 2025
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
Rofes P et al.
Cancer Medicine, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
Schwenk V et al.
Journal of Medical Genetics, 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
Mutation-specific Mismatch Repair-deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development.
Hegazy S et al.
The American Journal of Surgical Pathology, 2023
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Aziz S et al.
Familial Cancer, 2023
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Hassanin E et al.
Bmc Medical Genomics, 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
Simple IHC reveals complex MMR alternations than PCR assays: Validation by LCM and next-generation sequencing.
Amemiya K et al.
Cancer Medicine, 2022
Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition.
Güleç Ceylan G et al.
The Tohoku Journal of Experimental Medicine, 2022
Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.
Yang RK et al.
Cancers, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 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
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.
Yao J et al.
Cancer Biology & Medicine, 2022
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.
de Paula AE et al.
Cancer Genetics, 2021
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.
Vietri MT et al.
Medical Oncology (northwood, London, England), 2021
Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.
Brandão A et al.
International Journal of Molecular Sciences, 2020
Frequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients.
Wong S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients.
Brand RE et al.
Familial Cancer, 2020
Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.
De Falco V et al.
Esmo Open, 2020
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
Morak M et al.
European Journal of Human Genetics : Ejhg, 2019
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.
IJspeert H et al.
Frontiers in Immunology, 2019
Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.
North JP et al.
Nature Communications, 2018
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Genetic features of Lynch syndrome in the Israeli population.
Goldberg Y et al.
Clinical Genetics, 2015
Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.
Geurts-Giele WR et al.
The Journal of Pathology, 2014