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    BIOMARKER:

    CHEK2 mutation

    i
    Other names: CHEK2, bA444G7, CDS1, CHK2, HuCds1, PP1425, RAD53, Checkpoint kinase 2
    Entrez ID:
    11200
    Related biomarkers:
    Mutation
    Related tests:
    7d
    CHEK2 germline variants in B-cell precursor acute lymphoblastic leukemia: findings in Mexican pediatric patients. (PubMed, Front Oncol)
    Our findings and those described in the literature suggest that CHEK2 may play a role in the germline origin of childhood pre-B ALL in specific populations. However, this study provides preliminary evidence of pre-B ALL predisposition in Mexican children with CHEK2 GVs that needs replication in a larger cohort to obtain accurate estimations.
    Journal
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    CHEK2 (Checkpoint kinase 2)
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    CHEK2 mutation
    11d
    Age-related genomic characterization and therapeutic targets in Chinese breast cancer: insights from prospective targeted sequencing and clinical data analysis. (PubMed, BMC Med)
    Our study, which makes use of the largest Chinese breast cancer sequencing cohort, sought to characterize the age-related genomic profile of breast cancer patients and identify novel therapeutic opportunities for individuals with breast cancer.
    Clinical data • Journal • BRCA Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • CHEK2 (Checkpoint kinase 2) • FOXA1 (Forkhead Box A1)
    |
    TP53 mutation • PIK3CA mutation • CHEK2 mutation
    13d
    Niraparib in Patients With Pancreatic Cancer (clinicaltrials.gov)
    P2, N=32, Completed, Dana-Farber Cancer Institute | Active, not recruiting --> Completed
    Trial completion
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2)
    |
    BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation
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    Zejula (niraparib)
    14d
    A Phase I/II Study of Sacituzumab Govitecan Plus Berzosertib in Small Cell Lung Cancer, Extra-Pulmonary Small Cell Neuroendocrine Cancer and Homologous Recombination-Deficient Cancers Resistant to PARP Inhibitors (clinicaltrials.gov)
    P1/2, N=120, Recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2027 --> Mar 2029 | Trial primary completion date: Mar 2026 --> Mar 2028
    Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
    |
    BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • RAD54L mutation
    |
    berzosertib (M6620) • Trodelvy (sacituzumab govitecan-hziy)
    1m
    Metastatic Granular Cell Tumor of the Vulva With CHEK2 Mutation: A Case Report and Molecular Insights. (PubMed, Int J Gynecol Pathol)
    Our findings underscore the importance of integrating molecular profiling into the diagnostic and prognostic workup of GCTs and raise the question about the potential role of CHEK2 alterations as additional molecular determinants of aggressiveness beyond conventional histology. Long-term follow-up is warranted given the unpredictable clinical behavior of malignant GCTs.
    Journal
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    MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • CHEK2 (Checkpoint kinase 2) • CD68 (CD68 Molecule)
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    HRD • CHEK2 mutation
    2ms
    Differential Response to 177Lu-PSMA-617 in Patients with Tumor Suppressor Gene-Mutated Metastatic Castration-Resistant Prostate Cancer. (PubMed, J Nucl Med)
    TP53, PTEN, and RB1 mutations were linked to inferior overall survival in LuPSMA-treated patients and may serve as prognostic biomarkers. Prospective validation is required to establish their predictive value.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
    |
    TP53 mutation • PTEN mutation • PALB2 mutation • RB1 mutation • CHEK2 mutation
    |
    Pluvicto (lutetium Lu 177 vipivotide tetraxetan)
    2ms
    Artificial Intelligence-Enabled Integration Suggests TP53 Pathway Alterations as Prognostic Biomarkers in Populations with Disproportionate Health Burdens. (PubMed, Int J Mol Sci)
    Missense mutations were the predominant alteration type across groups. These findings suggest that TP53 pathway alterations may be associated with ancestry- and treatment-specific clinical patterns in EOCRC and illustrate how AI-enabled integrative analytic frameworks can facilitate hypothesis generation and prioritize candidate biomarkers for future validation in precision oncology.
    Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CHEK2 (Checkpoint kinase 2)
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    TP53 mutation • ATM mutation • CHEK2 mutation
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    5-fluorouracil • leucovorin calcium
    2ms
    Mutations with prognostic value in uveal melanoma. Analytical study of variants detected by targeted NGS. (PubMed, Can J Ophthalmol)
    Mutations in BAP1, CHEK2, and DICER1 are independently associated with poorer prognosis in UM, while SF3B1 defines a distinct histologic subgroup. Routine mutational profiling by targeted NGS may aid in risk stratification and follow-up of UM patients.
    Journal • Next-generation sequencing
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    SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • LRP1B (LDL Receptor Related Protein 1B) • CHEK2 (Checkpoint kinase 2) • DICER1 (Dicer 1 Ribonuclease III)
    |
    SF3B1 mutation • CHEK2 mutation
    2ms
    Olaparib and ASTX727 in BRCA1/2- and Homologous Recombination Deficient (HRD)-Mutated Tumors (clinicaltrials.gov)
    P1, N=18, Recruiting, Pamela Munster | Trial completion date: Feb 2027 --> Jan 2028 | Trial primary completion date: Jan 2026 --> Jan 2028
    Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2)
    |
    PALB2 mutation • CHEK2 mutation
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    Lynparza (olaparib) • Inqovi (decitabine/cedazuridine)
    2ms
    Malignant progression of SEGA-imitating fibrous meningioma in a child carrying a germline CHEK2 mutation. (PubMed, Pathobiology)
    Constitutional CHEK2 mutations combined with somatic NF1 defect may have promoted the malignant progression of SEGA-imitating fibrous meningioma and its favorable initial response to mTOR inhibitors.
    Journal
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    TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • TSC2 (TSC complex subunit 2) • CHEK2 (Checkpoint kinase 2) • TSC1 (TSC complex subunit 1)
    |
    CHEK2 mutation
    3ms
    Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study. (PubMed, World J Gastroenterol)
    Germline mutations in the APC gene were confirmed in more than 90% of Hungarian patients with clinically suspected FAP. Although the role of VUS genes is unclear, they are highly likely to play a role in the development of CRC.
    Journal
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    APC (APC Regulator Of WNT Signaling Pathway) • CHEK2 (Checkpoint kinase 2) • MSH3 (MutS Homolog 3)
    |
    CHEK2 mutation
    3ms
    Supplementary biomarker testing in molecular tumor boards increases actionable therapy recommendations: a prospective real-world study of 658 patients. (PubMed, BMC Med)
    The integration of additional biomarker assessments into MTB workflows enhances precision oncology by expanding the pool of patients eligible for targeted therapies.
    Journal • Real-world evidence • Tumor mutational burden • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker • Biomarker testings
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • FOLR1 ( Folate receptor alpha ) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • NECTIN4 (Nectin Cell Adhesion Molecule 4) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
    |
    HER-2 amplification • HRD • PALB2 mutation • CHEK2 mutation
    |
    TruSight Oncology 500 Assay