Associated Papers
Beyond 1100delC: distinct CHEK2 variants and unique cancer phenotypes in Northeast Brazil.
Noronha MM et al.
Familial Cancer, 2026
Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.
Meyer R et al.
Blood Cancer Journal, 2026
Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.
Rodriguez-Hernandez A et al.
Journal of the National Cancer Institute, 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 DNA Repair Mutations on Clonal Hematopoiesis and Myeloid Neoplasm Development.
Fedorov K et al.
Current Hematologic Malignancy Reports, 2025
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
Genomic Ascertainment of CHEK2-Related Cancer Predisposition.
Kim SY et al.
Jama Network Open, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 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
Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.
Kvist A et al.
Breast Cancer Research : Bcr, 2025
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC et al.
Haematologica, 2025
Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients.
Pócza T et al.
International Journal of Molecular Sciences, 2025
Identification of Patients at Elevated Cancer Risk through a Community-Based Genetic Testing Program.
Brabender D et al.
Annals of Surgical Oncology, 2025
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Association of gene variant type and location with breast cancer risk in the general population.
Akamandisa MP et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Breast cancer germline multigene panel testing in mainstream oncology based on clinical-public health utility: ESMO Precision Oncology Working Group recommendations.
Turnbull C et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 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
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis.
Tacelli M et al.
Seminars in Cancer Biology, 2025
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Stubbins RJ et al.
Leukemia, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Identification and triage of patients with incidental germline pathogenic variants on somatic tumor profiling with a genomics module.
Harris J et al.
Journal of Genetic Counseling, 2025
Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.
Goidescu IG et al.
International Journal of Molecular Sciences, 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 pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.
Terai M et al.
Journal of Clinical Medicine, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
[Pathogenic role of CHEK2 variants in Hungarian cancer patients: implications for breast cancer risk and genetic counselling].
Nagy P et al.
Magyar Onkologia, 2025
Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.
Geng H et al.
Blood Advances, 2025
CHEK2-related breast cancer: real-world challenges.
Weis LN et al.
Familial Cancer, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast.
Huang H et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.
Bychkovsky BL et al.
Jama Network Open, 2025
CHEK2 variants, breast cancer, and implications for management: a narrative review.
Conde DM
Translational Breast Cancer Research : a Journal Focusing on Translational Research in Breast Cancer, 2025