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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:
    4d
    NIRADO: Basket Trial Exploring the Efficacy and Safety of the Combination of Niraparib and Dostarlimab (clinicaltrials.gov)
    P2, N=51, Terminated, Gustave Roussy, Cancer Campus, Grand Paris | Trial completion date: Dec 2027 --> Feb 2025 | Suspended --> Terminated; Abandon of the partner, GSK
    Trial completion date • Trial termination • Pan tumor • Platinum sensitive
    |
    HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • ARID2 (AT-Rich Interaction Domain 2) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • DRD (DNA Repair Deficiency)
    |
    HER-2 positive • HER-2 amplification • DDR • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BARD1 mutation
    |
    Zejula (niraparib) • Jemperli (dostarlimab-gxly)
    4d
    ARIANES: Efficacy and Safety of the Combination of Rucaparib (PARP Inhibitor) and Atezolizumab (Anti-PD-L1 Antibody) in Patients With DNA Repair-deficient or Platinum-sensitive Solid Tumors (clinicaltrials.gov)
    P2, N=130, Terminated, Gustave Roussy, Cancer Campus, Grand Paris | Suspended --> Terminated; Bankruptcy of partner: Clovis
    Trial termination • Pan tumor • Platinum sensitive
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • IL2 (Interleukin 2) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • DRD (DNA Repair Deficiency)
    |
    DDR • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BARD1 mutation
    |
    Tecentriq (atezolizumab) • Rubraca (rucaparib)
    7d
    Predisposition of an Intronic Duplication in CHEK2 Gene in the Cases of Breast Cancer from Balochistan. (PubMed, Asian Pac J Cancer Prev)
    Our results suggest that the intronic variant identified in breast cancer cases as well as reported previously may act as a cancer marker and causing a splice site disruption or altering the posttranscriptional modification of mRNA encoded by CHEK2 gene.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2)
    |
    CHEK2 mutation
    15d
    Pediatric Spitzoid Melanoma: A Case Report. (PubMed, Acta Med Acad)
    This case report contributes to the limited body of knowledge on pediatric Spitzoid melanomas and underscores the importance of genetic insights in guiding both diagnostic and treatment decisions. The detection of a CHEK2 mutation underscores the importance of genetic profiling in family counseling.
    Journal
    |
    CHEK2 (Checkpoint kinase 2)
    |
    CHEK2 mutation
    1m
    Phase IIB Trial of Bazedoxifene Plus Conjugated Estrogens (clinicaltrials.gov)
    P2, N=120, Active, not recruiting, University of Kansas Medical Center | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • NF1 (Neurofibromin 1) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
    |
    PTEN mutation • PALB2 mutation • CHEK2 mutation
    1m
    Niraparib in Patients With Pancreatic Cancer (clinicaltrials.gov)
    P2, N=32, Active, not recruiting, Dana-Farber Cancer Institute | Trial primary completion date: Sep 2025 --> Dec 2025
    Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2)
    |
    ATM mutation • PALB2 mutation • CHEK2 mutation
    |
    Zejula (niraparib)
    2ms
    Prevalence of MUTYH Monoallelic Variants in Patients With Hereditary Cancer Using Multigene Panel Testing. (PubMed, Cancer Med)
    The higher MUTYH mutation rate observed in the cancer cohort compared with the control group; cancer recurrence observed in the heterozygous carriers and in both maternal and paternal family branches of patients harboring a DM suggests that MUTYH PVs may play a role in cancer predisposition and progression, even when monoallelic.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • MLH1 (MutL homolog 1) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MUTYH (MutY homolog)
    |
    CHEK2 mutation • BRIP1 mutation
    3ms
    CHEK2 Germline Variants in Early-Onset and Familial Myeloproliferative Neoplasms. (PubMed, Am J Hematol)
    Of 313 patients with early-onset or familial MPN, 7 (2.2%) patients had pathogenic/likely pathogenic (P/LP) germline heterozygous loss of function mutations in CHEK2. The presence of CHEK2 variants was associated with a familial history of malignancies and a higher risk of leukemic evolution, reinforcing the hypothesis of CHEK2 variants as tumor predisposing risk allele.
    Journal
    |
    CHEK2 (Checkpoint kinase 2)
    |
    CHEK2 mutation
    3ms
    The use of PARP inhibitors as maintenance therapy in ovarian carcinosarcoma: A case series. (PubMed, Gynecol Oncol Rep)
    One patient passed away 46 months after diagnosis, while three other patients remain alive from 25 to 108 months. We present a series of patients with ovarian carcinosarcoma who were treated with PARP inhibitors at our institution and saw clinically meaningful benefits, both in the upfront and recurrent setting.
    Journal • PARP Biomarker
    |
    HRD (Homologous Recombination Deficiency) • CHEK2 (Checkpoint kinase 2)
    |
    HRD • CHEK2 mutation
    3ms
    Impact of HRR Gene Subclass on Clinical Outcomes of PARP Inhibitors in Metastatic Castration-Resistant Prostate Cancer. (PubMed, Clin Genitourin Cancer)
    Patients with mCRPC harboring effector HRR mutations derive greater clinical benefit from PARPi plus ARSi than those with sensor mutations. These findings highlight the heterogeneous predictive value of HRR gene alterations and suggest that mutation sub-class should guide treatment decisions in HRD-positive mCRPC.
    Clinical data • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • CHEK1 (Checkpoint kinase 1) • FANCD2 (FA Complementation Group D2)
    |
    HRD • PALB2 mutation • CHEK2 mutation • CHEK1 mutation
    |
    Lynparza (olaparib) • abiraterone acetate
    4ms
    Effect of Polygenic Risk Modification on breast cancer risk management and prevention: The PRiMo Trial (ACTRN12621000009819)
    P=N/A, N=2400, Terminated, Peter MacCallum Cancer Centre | Recruiting --> Terminated
    Trial termination
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
    |
    PALB2 mutation • CHEK2 mutation • RAD51C mutation • RAD51D mutation
    4ms
    Lurbinectedin in Patients With Advanced Gastrointestinal Malignancies With DNA Repair Mutations (clinicaltrials.gov)
    P2, N=8, Completed, HonorHealth Research Institute | Recruiting --> Completed | N=19 --> 8 | Trial completion date: Aug 2026 --> Aug 2025
    Trial completion • Enrollment change • Trial completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting) • CA 19-9 (Cancer antigen 19-9)
    |
    ATM mutation • PTEN mutation • PALB2 mutation • CHEK2 mutation • BRIP1 mutation
    |
    Zepzelca (lurbinectedin)