Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.L1074F
Back to variants list

WRN

NM_000553.6:p.L1074F

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

DNA damage response mutations enhance the antitumor efficacy of ATR and PARP inhibitors in cholangiocarcinoma cell lines.

Lerksuthirat T et al.

Oncology Letters, 2025

39822940 (PubMed )
Supplement: Supplementary_Data3.xlsx › HuH-28

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

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

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

RecQ Helicase Somatic Alterations in Cancer.

Thakkar MK et al.

Frontiers in Molecular Biosciences, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

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_MOESM14_ESM.xlsx › Supplementary_Data_11

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 › SPC34

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

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.

He G et al.

Endocrine Journal, 2019

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

Lautrup S et al.

Biogerontology, 2019

Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.

Pan ZW et al.

Frontiers in Oncology, 2019

30967997 (PubMed )
Supplement: Table_1.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

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

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.s003.xlsx › S3

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

Kamath-Loeb AS et al.

Scientific Reports, 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

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

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 › WoH

Oncogenic mutation profiling in new lung cancer and mesothelioma cell lines.

Lam DC et al.

Oncotargets and Therapy, 2015

Polymorphisms in DNA repair genes, hair dye use, and the risk of non-Hodgkin lymphoma.

Guo H et al.

Cancer Causes & Control : Ccc, 2014

Oxidative stress and antioxidant response in fibroblasts from Werner and atypical Werner syndromes.

Seco-Cervera M et al.

Aging, 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

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

Single nucleotide polymorphism WRN Leu1074Phe is associated with prostate cancer susceptibility in Chinese subjects.

Wang L et al.

Acta Medica Okayama, 2011

Aging is accompanied by a progressive decrease of expression of the WRN gene in human blood mononuclear cells.

Polosak J et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2011

Roles of Werner syndrome protein in protection of genome integrity.

Rossi ML et al.

Dna Repair, 2010

Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM.

Frank B et al.

Carcinogenesis, 2010

A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women.

Wang Z et al.

Breast Cancer Research and Treatment, 2009

WRN polymorphisms affect expression levels of plasminogen activator inhibitor type 1 in cultured fibroblasts.

Castro E et al.

Bmc Cardiovascular Disorders, 2008

Genetic variation in the premature aging gene WRN: a case-control study on breast cancer susceptibility.

Ding SL et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Variants in the GH-IGF axis confer susceptibility to lung cancer.

Rudd MF et al.

Genome Research, 2006

Impact of genetic variations in the WRN gene on age related pathologies and mortality.

Kuningas M et al.

Mechanisms of Ageing and Development, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."