Varaico: Literature-Extracted Genetic Variants

Gene:OGG1
Variant:p.R46Q
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OGG1

NM_002542.6:p.R46Q

Associated Papers

Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.

Ul Haq S et al.

Hgg Advances, 2025

40308030 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_3

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-4.xlsx › Supplementary_Table_3

Neuroendocrine Tumors: Germline Genetics and Hereditary Syndromes.

Lauricella E et al.

Current Treatment Options in Oncology, 2025

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Rodriguez-Salamanca J et al.

Frontiers in Oncology, 2025

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.

Dos Santos W et al.

Cancers, 2022

36077770 (PubMed )
Supplement: cancers-14-04233-s001.zip › cancers-1703647-Supplementary_Table_S3.xlsx › Supp.Table_S3

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Robinson PS et al.

Nature Communications, 2022

Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.

Kohaar I et al.

Nature Communications, 2022

35292633 (PubMed )
Supplement: 41467_2022_28945_MOESM6_ESM.xls › Supplementary_Table_3

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastoma.

van den Boogaard ML et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34479993 (PubMed )
Supplement: pnas.2007898118.sapp.pdf

Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.

Tlemsani C et al.

Science Translational Medicine, 2021

Relationship between MUTYH, OGG1 and BRCA1 mutations and mRNA expression in breast and ovarian cancer predisposition.

Moscatello C et al.

Molecular and Clinical Oncology, 2021

Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Li C et al.

Genes, 2020

32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S4.xlsx › Sheet1

The correlation of combined OGG1, CYP1A1 and GSTP1 gene variants and risk of lung cancer of male Iraqi waterpipe tobacco smokers.

Kudhair BK et al.

Molecular Biology Reports, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2

Catalytically Competent Conformation of the Active Site of Human 8-Oxoguanine-DNA Glycosylase.

Popov AV et al.

Biochemistry. Biokhimiia, 2020

Isoforms of Base Excision Repair Enzymes Produced by Alternative Splicing.

Boldinova EO et al.

International Journal of Molecular Sciences, 2019

Thermostability and excision activity of polymorphic forms of hOGG1.

Mouzakis KD et al.

Bmc Research Notes, 2019

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Investigation of base excision repair gene variants in late-onset Alzheimer's disease.

Ertuzun T et al.

Plos One, 2019

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Kember RL et al.

Translational Psychiatry, 2018

30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.

Mur P et al.

Human Mutation, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_DNArep

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

Dumanski JP et al.

Endocrine-related Cancer, 2017

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Anastasaki C et al.

Oncotarget, 2017

28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1

Single nucleotide polymorphisms in DNA glycosylases: From function to disease.

D'Errico M et al.

Free Radical Biology & Medicine, 2017

Genome instability in Alzheimer disease.

Hou Y et al.

Mechanisms of Ageing and Development, 2017

Efficiency of Base Excision Repair of Oxidative DNA Damage and Its Impact on the Risk of Colorectal Cancer in the Polish Population.

Kabzinski J et al.

Oxidative Medicine and Cellular Longevity, 2016

A systematic review and meta-analysis of the association between OGG1 Ser326Cys polymorphism and cancers.

Zhou PT et al.

Medical Oncology (northwood, London, England), 2015

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335

Could 8-oxoguanine DNA glycosylase 1 Ser326Cys polymorphism be a biomarker of susceptibility in cancer?

Karahalil B et al.

Toxicology and Industrial Health, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.

Smith CG et al.

Journal of the National Cancer Institute, 2013

Meta-analysis demonstrates lack of association of the hOGG1 Ser326Cys polymorphism with bladder cancer risk.

Zhong DY et al.

Genetics and Molecular Research : Gmr, 2012

Lack of association between hOGG1 Ser326Cys polymorphism and the risk of bladder cancer: a meta-analysis.

Li D et al.

Urologia Internationalis, 2012

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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."