Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 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
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Lung adenocarcinoma with ALK deletion of exons 6-20 with response to sequential ALK inhibitors: a case report.
Jinno K et al.
Translational Lung Cancer Research, 2025
Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.
Guan Y et al.
Scientific Reports, 2025
Germline mutation analysis and postoperative recurrence risk prediction in breast cancer patients from western China.
Deng Z et al.
Translational 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
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Germline testing of Iranian families suspected of Lynch syndrome: molecular characterization and current surveillance of families with pathogenic variants in MSH2 , MSH6 , and PMS2.
Sina M et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2025
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.
Ohneda K et al.
Journal of Human Genetics, 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
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.
Horti-Oravecz K et al.
Npj Genomic Medicine, 2025
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.
Szabo E et al.
Human Mutation, 2025
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank.
Fummey E et al.
Journal of Medical Genetics, 2024
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
Gallon R et al.
Npj Precision Oncology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.
Cheng SM et al.
Journal of Biomedical Science, 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
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
Atypical Melanocytic Matricoma: A Case Report with Molecular Studies.
Feoli F et al.
The American Journal of Dermatopathology, 2023
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Roht L et al.
Cancers, 2023
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.
AlHarbi M et al.
Oncotarget, 2023
Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing.
Tous C et al.
International Journal of Molecular Sciences, 2023