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
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
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 2025
Skin cancer risk in hereditary mixed cancer syndromes.
Nikkola V et al.
Hereditary Cancer in Clinical Practice, 2025
Genomic Ascertainment of CHEK2-Related Cancer Predisposition.
Kim SY et al.
Jama Network Open, 2025
CHEK2 Germline Variants in Early-Onset and Familial Myeloproliferative Neoplasms.
Borsani O et al.
American Journal of Hematology, 2025
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
Utilization of genetic evaluation in patients with kidney cancer who meet guidelines for genetic referral.
Makarova E et al.
Urologic Oncology, 2025
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 2025
Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.
Moses RG et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025
Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.
Flores-Lagunes LL et al.
Familial Cancer, 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
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
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.
Cabral PL et al.
Jco Precision Oncology, 2025
Unusual Profile of Germline Genetic Variants in Unselected Colorectal Cancer Patients from a High-Prevalence Region in Panama.
Landires I et al.
Genes, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
Sanabria-Salas MC et al.
European Journal of Human Genetics : Ejhg, 2025
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Stubbins RJ et al.
Leukemia, 2025
The role of multi-organ cancer predisposition genes in the risk of inherited and histologically diverse gastric cancer.
Guerra J et al.
Ebiomedicine, 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
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
Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.
Potrony M et al.
Breast Cancer Research and Treatment, 2025
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
CHEK2-related breast cancer: real-world challenges.
Weis LN et al.
Familial Cancer, 2025
Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.
Rosenberger LH et al.
Breast Cancer Research and Treatment, 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
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M et al.
American Journal of Human Genetics, 2024
Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.
Ozdemir O et al.
Cancers, 2024
Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.
Thibaud S et al.
Blood Cancer Discovery, 2024
Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population.
Akamandisa MP et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
GI Polyps and Polyposis in Individuals Harboring Germline CHEK2 Mutations.
Chang C et al.
Diseases of the Colon and Rectum, 2024
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
Genomic ascertainment of CHEK2-related cancer predisposition.
Kim SY et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.
McCarthy-Leo CE et al.
Plos Genetics, 2024