Associated Papers
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
Analytical Validation and Clinical Sensitivity of the Belay Summit™ 2.0 Cerebrospinal Fluid Liquid Biopsy Test-An Expanded Comprehensive Genomic Profiling Platform for Central Nervous System Malignancies.
Khurana S et al.
Cancers, 2026
Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases.
Park JE et al.
Breast Cancer (tokyo, Japan), 2026
Impact of germline CHEK2 pathogenic variants on the risk of Acute Myeloid Leukemia and Myelodysplastic syndrome.
Yang F et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ 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
Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?
Schubart C et al.
International Journal of Cancer, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Stubbins RJ et al.
Leukemia, 2025
Prostate-Related Germline Variant Frequencies Detected in a Cohort of Men With Metastatic Prostate Cancer in Northern India.
Batra A et al.
Jco Precision Oncology, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Genetic Landscape of Mucosal Melanoma: Identifying Pathogenic Germline Variants.
Ribaudo I et al.
Pigment Cell & Melanoma Research, 2025
Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.
Vatsyayan A et al.
Journal of Genetics, 2025
Multilocus inherited neoplasia allele syndrome (MINAS) in a Turkish cohort: molecular insights and clinical relevance for precision oncology.
Bahsi T et al.
Frontiers in Pharmacology, 2025
Evaluation of Bayesian point-based system on the variant classification of hereditary cancer predisposition genes.
Eldomery MK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.
McCarthy-Leo CE et al.
Plos Genetics, 2024
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.
Infante M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Tracking updates in clinical databases increases efficiency for variant reanalysis.
Li L et al.
Genetics in Medicine Open, 2024
Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans.
Sargen MR et al.
Genetics in Medicine Open, 2024
Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants.
Mundt E et al.
Cancer Genetics, 2023
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hanson H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Schroeder C et al.
European Journal of Human Genetics : Ejhg, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Miyashita M et al.
Breast Cancer Research : Bcr, 2023
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.
Nacer DF et al.
Genome Medicine, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 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
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.
Lim BWX et al.
Journal of the National Cancer Institute, 2023
Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.
Zografos E et al.
Genes, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
Boonen RACM et al.
Cancer Research, 2022