Associated Papers
Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.
Chan-Pak-Choon F et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2026
Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.
Paksoy B et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Molecular Mosaics: Unveiling Heterogeneity in Synchronous Colorectal Cancers.
Lee HG et al.
Cancer Research and Treatment, 2026
Case Report: A case of Lynch syndrome-related glioblastoma with coexisting MSH2 splicing defect and MSH6 frameshift mutation.
Huang L et al.
Frontiers in Oncology, 2026
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.
Yin K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.
Taskiran I et al.
World Journal of Gastroenterology, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Universal Screening for Lynch Syndrome and molecular classification of patients with endometrial cancer.
Yan G et al.
International Journal of Surgery (london, England), 2025
Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.
Mizukami K et al.
Communications Medicine, 2025
A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.
Siu LL et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.
Yang B et al.
World Journal of Surgical Oncology, 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
Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.
Dos Santos Luciano MC et al.
Clinical Genetics, 2025
Circulating tumor DNA predicts clinical benefits of immune checkpoint blockade in HER2-negative patients with advanced gastric cancer.
He M et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2025
Incidence of MSI-H esophageal carcinoma and related identification of genomic alterations: A multi-center real-world study.
Jin J et al.
Human Pathology, 2025
A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.
Zhou Y et al.
Discover Oncology, 2025
Real-World Evaluation of Microsatellite Instability Detection via Targeted NGS Panels in Routine Molecular Diagnostics.
Škerl P et al.
International Journal of Molecular Sciences, 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Germline genomic profiling of patients with early-onset colorectal cancer.
Mauri G et al.
Esmo Gastrointestinal Oncology, 2025
Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.
Goidescu IG et al.
International Journal of Molecular Sciences, 2025
Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndrome.
Gallon R et al.
Clinical and Experimental Dermatology, 2025
Pathogenic germline variants in mismatch repair genes in patients with microsatellite instability-high gastric cancer.
Yun JH et al.
Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.
Mazouji O 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
Universal screening for Lynch syndrome in endometrial cancer diagnoses in Auckland, New Zealand: The initial experience.
Naiqiso SLS et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 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
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Preferential Genetic Pathways Lead to Relapses in Adult B-Cell Acute Lymphoblastic Leukemia.
Navas-Acosta J et al.
Cancers, 2024
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.
Loong L et al.
Journal of Medical Genetics, 2024
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.
Takemon Y et al.
Genome Medicine, 2024
Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.
Nagy P et al.
International Journal of Molecular Sciences, 2024
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
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.
Demir O et al.
American Journal of Medical Genetics. Part A, 2024