Associated Papers
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Stubbins RJ et al.
Leukemia, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
A microglia clonal inflammatory disorder in Alzheimer's disease.
Vicario R et al.
Elife, 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
Case Report: A rare pediatric case of B-cell lymphoblastic lymphoma presenting as an isolated renal mass with EWSR1::FLI1 translocation and germline CHEK2 variant.
Daniels KP et al.
Frontiers in Pediatrics, 2025
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M et al.
American Journal of Human Genetics, 2024
Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.
van der Tuin K et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
A microglia clonal inflammatory disorder in Alzheimer's Disease.
Vicario R et al.
Biorxiv : the Preprint Server for Biology, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
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
Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma.
Pitiyarachchi O et al.
Translational Oncology, 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 panel testing and association analysis in Cypriot breast cancer cases and controls.
Zanti M et al.
Frontiers in Genetics, 2023
Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.
Hu D et al.
Cancer Science, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 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
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
Kleiblova P et al.
International Journal of Cancer, 2019
Germline mutation and aberrant transcripts of WWOX in a syndrome with multiple primary tumors.
Xu A et al.
The Journal of Pathology, 2019
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
Delimitsou A et al.
Human Mutation, 2019
Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.
Kleiblová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
Copy number signatures and mutational processes in ovarian carcinoma.
Macintyre G et al.
Nature Genetics, 2018
Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
Jean S et al.
Oncotarget, 2016
Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations.
Wu C et al.
Oncotarget, 2016
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.
Lawrenson K et al.
Carcinogenesis, 2015
Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.
Ow GS et al.
Cell Cycle (georgetown, Tex.), 2014
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.
Le Calvez-Kelm F et al.
Breast Cancer Research : Bcr, 2011