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    BIOMARKER:

    WRN mutation

    i
    Other names: WRN, WRN RecQ Like Helicase, Werner Syndrome ATP-Dependent Helicase, Werner Syndrome RecQ Like Helicase, DNA Helicase RecQ-Like Type 3, RecQ Protein-Like 2, Exonuclease WRN, RECQL2, RECQ3, Werner Syndrome RecQ Helicase-Like, Werner Syndrome, RECQL3, RecQ3
    Entrez ID:
    7486
    Related biomarkers:
    Expression
    1year
    Werner syndrome RECQ helicase participates in and directs maintenance of the protein complexes of constitutive heterochromatin in proliferating human cells. (PubMed, Aging (Albany NY))
    WRN interacts with histone deacetylase 2, HDAC2; WRN/HDAC2 association is mediated by heterochromatin protein alpha, HP1α, and WRN complexes with HP1α and HDAC2 are downregulated in senescing cells. The data suggest that the effect of WRN loss on heterochromatin is separable from senescence program, but mimics at least some of the heterochromatin changes associated with it.
    Journal
    |
    HDAC2 (Histone deacetylase 2) • WRN (WRN RecQ Like Helicase)
    |
    WRN mutation
    1year
    Large-scale analysis of CDH1 mutations defines a distinctive molecular subset with treatment implications in gastric cancer. (PubMed, NPJ Precis Oncol)
    This is the largest study to investigate the distinct genomic landscape of CDH1-MT GC. Our data indicated GC patients with CDH1 mutations could potentially benefit from agents targeting PARP and Wee1.
    Journal • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • CDK12 (Cyclin dependent kinase 12) • APC (APC Regulator Of WNT Signaling Pathway) • CDH1 (Cadherin 1) • IGF1R (Insulin-like growth factor 1 receptor) • CRKL (CRK Like Proto-Oncogene, Adaptor Protein) • WRN (WRN RecQ Like Helicase) • POT1 (Protection of telomeres 1) • FANCC (FA Complementation Group C)
    |
    TP53 mutation • HER-2 amplification • ARID1A mutation • CDK12 mutation • CDH1 mutation • WRN mutation • CRKL amplification • IGF1R amplification
    over1year
    Dietary Restriction Fails to Extend Lifespan of Drosophila Model of Werner Syndrome. (PubMed, G3 (Bethesda))
    Compared to wild type control flies, the mutant flies also exhibited altered responses to DR in their resistance to starvation and oxidative stress, as well as changes in sleep/wake patterns. These findings show that the WRN protein is necessary for mediating the effects of DR and suggest that the exonuclease domain of WRN plays an important role in metabolism in addition to its primary role in DNA repair and genome stability.
    Journal
    |
    WRN (WRN RecQ Like Helicase)
    |
    WRN mutation
    almost2years
    Niraparib Plus Carboplatin in Patients With Homologous Recombination Deficient Advanced Solid Tumor Malignancies (clinicaltrials.gov)
    P1, N=23, Terminated, Georgetown University | Trial completion date: Jul 2025 --> Oct 2023 | Active, not recruiting --> Terminated | Trial primary completion date: Jul 2025 --> Oct 2023; Lack of accrual
    Trial completion date • Trial termination • Trial primary completion date • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • KMT2D (Lysine Methyltransferase 2D) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • WRN (WRN RecQ Like Helicase) • FANCG (FA Complementation Group G) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
    |
    BARD1 mutation • WRN mutation
    |
    carboplatin • Zejula (niraparib)
    almost2years
    Sclerosing epithelioid fibrosarcoma associated with WRN gene variant presenting as chronic dyspnea and pathologic cervical fracture: a case report and review of the literature. (PubMed, J Med Case Rep)
    Sclerosing epithelioid fibrosarcoma is a very rare entity, only cited approximately 100 times in literature to date. Physicians should be aware of this disease entity and consider it in their differential diagnosis. Though pulmonary involvement has been described in the context of sclerosing epithelioid fibrosarcoma, this malignancy may affect many organ systems, warranting extensive investigation. Through our diagnostic workup, we suggest a possible link between sclerosing epithelioid fibrosarcoma and the WRN gene. Further study is needed to advance our understanding of sclerosing epithelioid fibrosarcoma and its clinical associations as it is an exceedingly rare diagnosis.
    Review • Journal
    |
    MUC4 (Mucin 4, Cell Surface Associated) • WRN (WRN RecQ Like Helicase)
    |
    WRN mutation
    |
    doxorubicin hydrochloride
    2years
    Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study. (PubMed, Front Genet)
    Our findings confirm that the homozygous ERCC2 (p.R683Q) mutation was responsible for causing melanoma and other cancer types in the family. Our work highlights the value to decipher the mutational background of familial cancers, especially CM, in the Palestinian population to guide diagnosis, prevention, and treatment of affected patients and their families.
    Journal • Next-generation sequencing
    |
    ERCC2 (Excision repair cross-complementation group 2) • WRN (WRN RecQ Like Helicase) • TYRP1 (Tyrosinase Related Protein 1)
    |
    WRN mutation • ERCC2 mutation
    2years
    Niraparib Plus Carboplatin in Patients With Homologous Recombination Deficient Advanced Solid Tumor Malignancies (clinicaltrials.gov)
    P1, N=23, Active, not recruiting, Georgetown University | Recruiting --> Active, not recruiting | N=146 --> 23
    Enrollment closed • Enrollment change • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • KMT2D (Lysine Methyltransferase 2D) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • WRN (WRN RecQ Like Helicase) • FANCG (FA Complementation Group G) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
    |
    BARD1 mutation • WRN mutation
    |
    carboplatin • Zejula (niraparib)
    2years
    The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome. (PubMed, Endocrine)
    We identified a novel homozygous frameshift mutation, p.I223fs, in WRN in a Chinese patient with WS, expanding the spectrum of mutations in WS.
    Journal
    |
    WRN (WRN RecQ Like Helicase)
    |
    WRN mutation
    over2years
    Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer. (PubMed, Hered Cancer Clin Pract)
    The presented case contributes to the etiology of LLS and confirms the need for specific genetic testing, together with genetic counseling, in hereditary cancer syndromes. The use of combined information from clinicians, pathologists, genetic counselors, and data from NGS testing for cancer predisposition, clinical surveillance, and follow-up management in women with gynecology cancers, especially SEOC, could be improved.
    Journal
    |
    MLH1 (MutL homolog 1) • WRN (WRN RecQ Like Helicase)
    |
    WRN mutation
    over2years
    Clinical and genetic characteristics in pancreatic cancer from Chinese patients revealed by whole exome sequencing. (PubMed, Front Oncol)
    The TMB index was higher in patients with mutant-type KRAS MUT/TP53 MUT (p < 0.001), CDKN2A (p = 0.547), or SMAD4 (p = 0.064) compared to patients with wild-type KRAS/TP53, CDKN2A, or SMAD4. We exhibited real-world genetic traits and new alterations in Chinese individuals with cancer of the pancreas, which might have interesting implications for future individualized therapy and medication development.
    Journal • Tumor mutational burden • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • FGFR3 (Fibroblast growth factor receptor 3) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • PALB2 (Partner and localizer of BRCA2) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • GAS6 (Growth arrest specific 6) • MMP17 (Matrix Metallopeptidase 17) • WRN (WRN RecQ Like Helicase) • TENM4 (Teneurin Transmembrane Protein 4) • MMP7 (Matrix metallopeptidase 7) • USP7 (Ubiquitin Specific Peptidase 7)
    |
    PD-L1 expression • TP53 mutation • KRAS mutation • ATM mutation • PALB2 mutation • KRAS wild-type • RAS wild-type • SMAD4 mutation • FGFR3 fusion • WRN mutation
    over2years
    Germline cancer gene expression quantitative trait loci are associated with local and global tumor mutations. (PubMed, Cancer Res)
    An EPHA5 eQTL was associated with mutations in cancer genes specific to colorectal cancer, and eQTL related to expression of APC, WRN, GLI1, FANCA, and TP53 were associated with mutations in genes specific to endometrial cancer. These findings provide evidence that germline-somatic associations are mediated through expression of specific cancer genes, opening new avenues for research on the underlying biological processes.
    Journal • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ATM (ATM serine/threonine kinase) • FANCA (FA Complementation Group A) • GLI1 (GLI Family Zinc Finger 1) • WRN (WRN RecQ Like Helicase) • EPHA5 (EPH Receptor A5) • GLI2 (GLI Family Zinc Finger 2)
    |
    ATM mutation • FANCA mutation • TP53 expression • WRN mutation • ATM expression • WRN expression
    almost3years
    Niraparib Plus Carboplatin in Patients With Homologous Recombination Deficient Advanced Solid Tumor Malignancies (clinicaltrials.gov)
    P1, N=146, Recruiting, Georgetown University | Trial completion date: Aug 2023 --> Jul 2025 | Trial primary completion date: Aug 2023 --> Jul 2025
    Trial completion date • Trial primary completion date • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • KMT2D (Lysine Methyltransferase 2D) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • WRN (WRN RecQ Like Helicase) • FANCG (FA Complementation Group G) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
    |
    BARD1 mutation • WRN mutation
    |
    carboplatin • Zejula (niraparib)