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    BIOMARKER:

    RECQL4 mutation

    i
    Other names: RECQL4, RecQ Like Helicase 4, ATP-Dependent DNA Helicase Q4, RecQ Helicase-Like 4, RecQ Protein-Like 4, RECQ4, DNA Helicase RecQ-Like Type 4, DNA Helicase RecQ-Like Type 4, RecQ4, RTS
    Entrez ID:
    9401
    1year
    FENIX-LCNEC study - Feasibility and efficacy of immunochemotherapy in correlation with genomic characteristics in large cell neuroendocrine carcinoma of the lung (DGHO 2024)
    Here we present a case series of metastatic LCNEC in which favorable clinical courses with persistent response periods towards immunochemotherapy with nivolumab/ipilimumab/carboplatin and paclitaxel were achieved. The case series presented here underlines the feasibility and efficacy of combined ICI targeting PD-1 and CTLA-4 in combination with a platinum doublet in metastatic LCNEC. Despite the limited number of cases, we suggest the TMB to be a frequent and potentially characteristic marker in LCNEC that is well known to predict responsiveness towards immunochemotherapy.
    Clinical • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • PD-1 (Programmed cell death 1) • RECQL4( RecQ Like Helicase 4)
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    PD-L1 expression • TP53 mutation • KRAS mutation • KRAS G12C • PTEN mutation • ARID1A mutation • KRAS G12 • KRAS G12C + PD-L1 expression • RECQL4 mutation
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    TruSight Oncology 500 Assay
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    Opdivo (nivolumab) • Yervoy (ipilimumab) • carboplatin • paclitaxel
    1year
    Unraveling the mechanisms of RECQL4-mediated cervical cancer progression through the PI3K/AKT pathway. (PubMed, Transl Oncol)
    Our findings provide novel insights into the mechanism behind RECQL4-mediated cervical cancer progression through the PI3K/AKT pathway. Furthermore, our study suggests potential therapeutic strategies for targeting RECQL4 in cervical cancer treatment.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • RECQL4( RecQ Like Helicase 4)
    |
    RECQL4 mutation
    1year
    Atypical presentations of RECQL4-related syndromes. (PubMed, Pediatr Blood Cancer)
    We describe five patients with biallelic germline mutations in RECQL4 who presented atypically, without the hallmark clinical manifestations of this syndrome. Three of these patients developed osteosarcoma, underscoring the importance of recognizing atypical presentations of Rothmund-Thomson syndrome (RTS) to allow for early awareness and surveillance for cancer.
    Journal
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    RECQL4( RecQ Like Helicase 4)
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    RECQL4 mutation
    over1year
    Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China. (PubMed, Sci Rep)
    Furthermore, we pointed out that deleterious mutations of FNACD2 and RECQL4 are potential ovarian cancer susceptibility genes and may predispose carriers to ovarian cancer. In conclusion, our study highlights the necessity of comprehensive germline mutation detection of DNA damage response genes in ovarian cancer patients, which is conducive to patient management and genetic counseling.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • RECQL4( RecQ Like Helicase 4)
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    BRCA2 mutation • BRCA1 mutation • RECQL4 mutation
    almost2years
    SUKSES-B2: Olaparib and Bevacizumab in Relapsed Small Cell Lung Cancer Subjects (clinicaltrials.gov)
    P2, N=25, Completed, Se-Hoon Lee | Recruiting --> Completed | Trial primary completion date: Jun 2023 --> Oct 2023
    Trial completion • Trial primary completion date • Combination therapy
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • SLFN11 (Schlafen Family Member 11) • BRCA (Breast cancer early onset) • RAD51 (RAD51 Homolog A) • RAD51B (RAD51 Paralog B) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • WRN (WRN RecQ Like Helicase) • POU2F3 (POU Class 2 Homeobox 3) • RAD52 (RAD52 Homolog DNA Repair Protein) • RECQL5 (RecQ Like Helicase 5) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4) • RPA1 (Replication Protein A1)
    |
    BRCA2 mutation • BRCA1 mutation • RAD51C mutation • RAD51D mutation • RAD50 mutation • RAD51B mutation • BLM mutation • BRCA mutation • MRE11A mutation • RAD54L mutation • NBN mutation • RAD52 mutation • RECQL mutation • RECQL4 mutation • RECQL5 mutation
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    Avastin (bevacizumab) • Lynparza (olaparib)
    2years
    Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma. (PubMed, Life (Basel))
    Patients with tumors carrying PRKACA, BRD4, or TPM4 amplification were associated with a significantly shorter OS. RECQL4 amplification was more frequent in younger patients, and tumors with this amplification were associated with a significantly better OS.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • RAD21 (RAD21 Cohesin Complex Component) • BRD4 (Bromodomain Containing 4) • PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha) • RECQL4( RecQ Like Helicase 4) • TPM4 (Tropomyosin 4) • TBL1XR1 (TBL1X Receptor 1) • UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5) • EXT1 (Exostosin Glycosyltransferase 1)
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    RECQL4 mutation
    2years
    Unique molecular signatures of germline mutations in low expression of human epidermal growth factor receptor 2 (HER2) breast cancer (SABCS 2023)
    HER2-low BC patients have distinct germline mutational signatures and differential clinical outcomes under neoadjuvant systemic therapy. These results have provided additional evidence that HER2-low patients comprise a fourth subtype of BC that needs to be accounted for separately in terms of clinical treatment and outcome reporting.
    BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • MSH2 (MutS Homolog 2) • ERCC1 (Excision repair cross-complementation group 1) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51C (RAD51 paralog C) • MRE11A (MRE11 homolog, double strand break repair nuclease) • MUTYH (MutY homolog) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M) • FLCN (Folliculin) • FANCD2 (FA Complementation Group D2) • RECQL4( RecQ Like Helicase 4) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • RAD54B (RAD54 Homolog B)
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    BRCA1 mutation • EGFR mutation • HER-2 overexpression • HER-2 mutation • HER-2 expression • ATM mutation • PALB2 mutation • MSH2 mutation • RAD51C mutation • FANCA mutation • PMS2 mutation • FANCI mutation • FANCM mutation • RAD51 mutation • RECQL4 mutation
    over2years
    Complex genomic and transcriptomic analysis in uterine tumours resembling ovarian sex cord tumour (UTROSCT) (ECP 2023)
    Other alterations detected included rare class 4/5 mutations in CHEK2 and RECQL4. Conclusion Our complex study of the molecular alterations in UTROSCT has revealed potentially significant gene fusions and genetic alterations in these tumours, some of which may be clinically actionable.
    Omic analysis
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    CHEK2 (Checkpoint kinase 2) • COL6A3 (Collagen Type VI Alpha 3 Chain) • RECQL4( RecQ Like Helicase 4) • NCOA2 (Nuclear Receptor Coactivator 2)
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    CHEK2 mutation • RECQL4 mutation
    over2years
    Molecular Profiling Reveals Distinct Clinical and Genomic Features as Potential Therapeutic Targets in Pulmonary Spindle Cell Carcinoma (IASLC-WCLC 2023)
    PSCC is an aggressive type of lung cancer with distinct genetic features associated with poor clinical outcomes in conventional targeted therapy. Our findings contribute to a better understanding of the underlying biology of PSCC, which may facilitate the diagnosis and tailored treatment of this rare malignancy.
    Clinical • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • LRP1B (LDL Receptor Related Protein 1B) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FAT1 (FAT atypical cadherin 1) • ARID2 (AT-Rich Interaction Domain 2) • RECQL4( RecQ Like Helicase 4) • FOXL2 (Forkhead Box L2)
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    PD-L1 expression • TP53 mutation • KRAS mutation • TMB-H • RECQL4 mutation
    over2years
    A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report. (PubMed, Iran J Med Sci)
    RECQL4 is a known protein in DNA repair and replication. Considering its effect on other types of SCC, it may play an important role in SCC initiation and progression in the breast.
    Journal
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    RECQL4( RecQ Like Helicase 4)
    |
    RECQL4 mutation
    over2years
    A case of Rothmund-Thomson syndrome type II accompanying with Hodgkin lymphoma and Phenylketonuria (WCD 2023)
    The patient has been treated with “four courses of ABVD (Adriamycin, Bleomycin, Vincristine, Dacarbazine) regimen”, “two courses of Sintilimab (Anti-PD-1 Antibody) combined with Cisplatin and Gemcitabine” and “seven courses of Brentuximab (Anti-CD30 Antibody) combined with Etoposide and Epirubicin”respectively during the past two years. KEY MESSAGE: RTS is a rare disease associated with gene mutations, which may associated with the incidence of HL. The combination of chemotherapy agents and targeted agents may be an appropriate treatment option for RTS patients with HL.
    Clinical • Late-breaking abstract • PD(L)-1 Biomarker • IO biomarker
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    RECQL4( RecQ Like Helicase 4)
    |
    RECQL4 mutation
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    cisplatin • gemcitabine • Tyvyt (sintilimab) • doxorubicin hydrochloride • etoposide IV • Adcetris (brentuximab vedotin) • epirubicin • vincristine • dacarbazine • bleomycin
    over2years
    De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants. (PubMed, Blood Sci)
    The co-occurring U2AF1 p.S34F and TP53 p.Y220C mutations might contribute to the development of MDS. Our study expands the mutational spectrum of RECQL4 and provides underlying molecular mechanism for the development of MDS in RTS patients.
    Journal
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    TP53 (Tumor protein P53) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • RECQL4( RecQ Like Helicase 4)
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    TP53 mutation • U2AF1 mutation • TP53 Y220C • RECQL4 mutation • U2AF1 S34F