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GENE:

RECQL (RecQ Like Helicase)

News alerts, weekly reports and conference planners

Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction. (PubMed, Congenit Anom (Kyoto))

Clarification of the molecular diagnosis had important implications for these parents because they carried a 25% risk of recurrence. They were recommended to plan future pregnancies with preimplantation genetic testing for monogenic disorders to avoid future offspring with BS.

1 month ago

Journal

BLM (BLM RecQ Like Helicase) • RECQL (RecQ Like Helicase)

RECQL4 promotes the malignant progression of lung adenocarcinoma through the YBX1/G3BP1-mediated NF-κB signaling pathway. (PubMed, Cell Death Discov)

In conclusion, RECQL4 promotes the malignant progression of LUAD through the YBX1/G3BP1-mediated NF-κB signaling pathway. These findings suggest that RECQL4 has the potential to serve as a novel prognostic biomarker and an effective therapeutic target for LUAD.

1 month ago

Journal

YBX1 (Y-Box Binding Protein 1) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4) • G3BP1 (G3BP Stress Granule Assembly Factor 1)

2ms

GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation. (PubMed, Int J Surg)

This work reveals a causal relationship between EBV infection and ccRCC pathogenesis, establishing GBP1 as a top-priority candidate molecule through a multi-level, multi-dimensional evidence framework. Drug prediction and molecular docking suggest finasteride as a potential inhibitor of GBP1, offering new strategies for the precise prevention and treatment of ccRCC.

2 months ago

Journal

GBP5 (Guanylate Binding Protein 5) • GBP1 (Guanylate Binding Protein 1) • IFI16 (Interferon Gamma Inducible Protein 16) • IL12RB1 (Interleukin 12 Receptor Subunit Beta 1) • RECQL (RecQ Like Helicase)

finasteride

3ms

Nucleoplasmic Lamin A/C controls replication fork restart upon stress by modulating local H3K9me3 and ADP-ribosylation levels. (PubMed, Nat Commun)

H3K9me3 loss per se phenocopies Lamin A/C inactivation, reducing PAR levels and deregulating fork restart by RECQ1. Hence, nucleoplasmic Lamin A/C, H3K9me3 and PARylation levels are crucial, mechanistically linked modulators of fork dynamics upon mild RS, with important implications for chemotherapy response and for Lamin A/C dysfunction in human disease.

3 months ago

Journal

LMNA (Lamin A/C) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • RECQL (RecQ Like Helicase) • KDM3A (Lysine Demethylase 3A)

4ms

RECQL4 as a novel drug target against ovarian cancer. (PubMed, Biochem Pharmacol)

The molecular mechanism of TC12-1 targeting RECQL4 in anti-ovarian epithelial cell carcinoma involves the regulation of key genes such as γ-H2AX, PRPA32, ATM, RAD50, CHK2, P53, P21, Bax, CyclinE, and CDC2, thereby affecting the cell cycle and DNA replication signaling pathways. The results provide theoretical support for developing specific ovarian cancer therapeutic drugs using RECQL4 as a new target.

4 months ago

Journal

CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • CDK1 (Cyclin-dependent kinase 1) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • RECQL (RecQ Like Helicase) • RECQL4( RecQ Like Helicase 4)

4ms

RECQL1 as a potential therapeutic target for PARP inhibitor-resistant ovarian cancer. (PubMed, Sci Rep)

RECQL1 knockdown significantly enhanced the sensitivity to olaparib in two ovarian cancer cell lines. Overall, RECQL1 plays a critical role in PARP inhibitor resistance and is a promising therapeutic target to improve ovarian cancer patient outcomes.

4 months ago

Journal • PARP Biomarker

HRD (Homologous Recombination Deficiency) • RECQL (RecQ Like Helicase)

Lynparza (olaparib)

5ms

Identification and Characterization of Rare Genetic Variants Associated with pathogenicity Breast Cancer Susceptibility Across Thousand Genome and GnomAD population. (PubMed, medRxiv)

Our analysis reaffirms the pathogenic burden concentrated in high penetrance genes and highlights the utility of combined in silico prediction tools and population frequency filters in variant prioritization. These findings support refined variant curation pipelines for hereditary breast cancer and provide a framework for interpreting gene-level pathogenicity across diverse susceptibility loci.

5 months ago

Journal • BRCA Biomarker

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • FANCD2 (FA Complementation Group D2) • RECQL (RecQ Like Helicase)

5ms

Genetic Variants Associated with Breast Cancer Are Detected by Whole-Exome Sequencing in Vietnamese Patients. (PubMed, Diagnostics (Basel))

This is the first WES study to identify BC-associated genetic variants in Vietnamese patients, providing a comprehensive database of BC susceptibility gene variants. We suggest using WES as a tool to identify genetic variants in BC patients for risk prediction and treatment guidance.

5 months ago

Journal

ER (Estrogen receptor) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • NF1 (Neurofibromin 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • CASP8 (Caspase 8) • WRN (WRN RecQ Like Helicase) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • RECQL (RecQ Like Helicase) • KLLN (Killin P53 Regulated DNA Replication Inhibitor) • LZTR1 (Leucine Zipper Like Transcription Regulator 1) • RB1CC1 (RB1 Inducible Coiled-Coil 1) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit) • XRCC3 (X-Ray Repair Cross Complementing 3) • ACVR1B (Activin A Receptor Type 1B)

6ms

Spindle Cell Spindle Sarcoma Harboring a Novel RECQL::ROS1 Gene Fusion. (PubMed, Int J Surg Pathol)

The patient undergone radiotherapy after surgery and recovered well without recurrence and metastasis 8 months after surgery. This study extends the spectrum of ROS1-rearrangements in the spindle cell sarcoma, while underscoring the pivotal role of comprehensive molecular profiling in providing diagnostic clarity and identifying actionable therapeutic targets.

6 months ago

Journal

ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • CDK4 (Cyclin-dependent kinase 4) • CD34 (CD34 molecule) • SOX10 (SRY-Box 10) • STAT6 (Signal transducer and activator of transcription 6) • TP63 (Tumor protein 63) • RECQL (RecQ Like Helicase) • MYOD1 (Myogenic Differentiation 1)

ROS1 fusion • ROS1 rearrangement

8ms

High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics. (PubMed, Mol Biol Rep)

Our findings reveal a high burden of potentially pathogenic VUSs in indigenous African patients with eoCRC, reflecting both unique genetic architecture and a critical gap in global genomic equity. These variants may contribute to future variant reclassification and improved understanding of CRC predisposition in African populations. This study underscores the urgent need for population-specific genomic research and the development of inclusive variant databases to support accurate diagnosis and personalised care.

8 months ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NOTCH1 (Notch 1) • ASXL1 (ASXL Transcriptional Regulator 1) • WT1 (WT1 Transcription Factor) • NOTCH2 (Notch 2) • CHEK2 (Checkpoint kinase 2) • FAT1 (FAT atypical cadherin 1) • RAD51B (RAD51 Paralog B) • RAD54L (DNA Repair And Recombination Protein RAD54) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • IR (Insulin receptor) • MITF (Melanocyte Inducing Transcription Factor) • PYCR1 (Pyrroline-5-Carboxylate Reductase 1) • RECQL (RecQ Like Helicase) • LZTR1 (Leucine Zipper Like Transcription Regulator 1) • RASA1 (RAS P21 Protein Activator 1) • UGT1A7 (UDP Glucuronosyltransferase Family 1 Member A7)

9ms

Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing. (PubMed, BMC Cancer)

Using WES, we found that 28.26% of patients with OC had germline cancer-predisposing variations. WES substantially improved the detection rates of a wide spectrum of variations in OC patients and uncovered putative predisposition genes.

9 months ago

Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54) • RECQL (RecQ Like Helicase)