Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.C1367R
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WRN

NM_000553.6:p.C1367R

Associated Papers

The Werner syndrome RECQ helicase as a therapeutic target: new insights.

Sidorova JM et al.

Expert Opinion on Therapeutic Targets, 2026

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America.

Landeros N et al.

Biological Research, 2024

Response to Replication Stress and Maintenance of Genome Stability by WRN, the Werner Syndrome Protein.

Orren DK et al.

International Journal of Molecular Sciences, 2024

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Genetic Factors in Familial Manifestation of Primary Mediastinal Large B-Cell Lymphoma over Two Generations.

Juskevicius D et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

RecQ Helicase Somatic Alterations in Cancer.

Thakkar MK et al.

Frontiers in Molecular Biosciences, 2022

A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Ng CC et al.

Frontiers in Molecular Biosciences, 2022

36213130 (PubMed )
Supplement: DataSheet1.xlsx › Table_S9

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

Werner Syndrome Protein Expression in Breast Cancer.

Savva C et al.

Clinical Breast Cancer, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC35

Association between Single Nucleotide Polymorphisms and Glioma Risk: A Systematic Literature Review.

Tavares CB et al.

Cancer Investigation, 2020

Identification of novel mutations of ovarian cancer-related genes from RNA-sequencing data for Japanese epithelial ovarian cancer patients.

Nagasawa S et al.

Endocrine Journal, 2020

Studying Werner syndrome to elucidate mechanisms and therapeutics of human aging and age-related diseases.

Lautrup S et al.

Biogerontology, 2019

Polymorphisms in DNA repair pathway genes and ABCG2 gene in advanced colorectal cancer: correlation with tumor characteristics and clinical outcome in oxaliplatin-based chemotherapy.

Hu X et al.

Cancer Management and Research, 2019

Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.

Liu F et al.

Therapeutic Advances in Medical Oncology, 2019

31205508 (PubMed )
Supplement: Supplemental_Table_3.xlsx › Sheet1

Associations of mRNA expression of DNA repair genes and genetic polymorphisms with cancer risk: a bioinformatics analysis and meta-analysis.

Wu H et al.

Journal of Cancer, 2019

Discovering novel SNPs that are correlated with patient outcome in a Singaporean cancer patient cohort treated with gemcitabine-based chemotherapy.

Limviphuvadh V et al.

Bmc Cancer, 2018

29751792 (PubMed )
Supplement: 12885_2018_4471_MOESM1_ESM.zip › TableS2R2.xlsx › Table_S2

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.

Kamath-Loeb AS et al.

Scientific Reports, 2017

Association Between XRCC1 and WRN as Genetic Markers of Stability and Susceptibility to Cancer in Patients with HIV/AIDS and Cancer: a Cross-Sectional Study

Maldonado Gde C et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2017

Genetic variation in WRN and ischemic stroke: General population studies and meta-analyses.

Christoffersen M et al.

Experimental Gerontology, 2017

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Yokote K et al.

Human Mutation, 2017

Recent Advances in Understanding Werner Syndrome.

Shamanna RA et al.

F1000research, 2017

Different non-synonymous polymorphisms modulate the interaction of the WRN protein to its protein partners and its enzymatic activities.

Gagné JP et al.

Oncotarget, 2016

Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients.

Lee Y et al.

Genomics, 2016

Association of DNA repair gene polymorphisms with response to cisplatin-based concurrent chemoradiotherapy in patients with cervical carcinoma.

Liu JH et al.

Dna Repair, 2016

Association Between WRN Cys1367Arg (T>C) and Cancer Risk: A Meta-analysis.

Wang B et al.

Technology in Cancer Research & Treatment, 2016

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense

Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.

Zins K et al.

International Journal of Molecular Sciences, 2015

A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population.

Zhou H et al.

Journal of Bone and Mineral Metabolism, 2015

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

Rawal RM et al.

3 Biotech, 2015

28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WH

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

Predictive impact of genetic polymorphisms in DNA repair genes on susceptibility and therapeutic outcomes to colorectal cancer patients.

Sun K et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A7-A0CG-01A.domain

Quantitative assessment of the association between HDMX polymorphism and sarcoma.

Xu H et al.

Cell Biochemistry and Biophysics, 2014

WRN Cys1367Arg polymorphism is not associated with skull base chordoma.

Wang K et al.

Biomedical Reports, 2014

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Oshima J et al.

Gerontology, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Catalytic activities of Werner protein are affected by adduction with 4-hydroxy-2-nonenal.

Czerwińska J et al.

Nucleic Acids Research, 2014

Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-related cataract in a Han Chinese population.

Jiang S et al.

Age (dordrecht, Netherlands), 2013

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry.

Saha B et al.

Molecular Genetics & Genomic Medicine, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."