Varaico: Literature-Extracted Genetic Variants

Gene:POLB
Variant:p.P242R
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POLB

NM_002690.3:p.P242R

Associated Papers

Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study.

Lin YY et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Mouse models to explore the biological and organismic role of DNA polymerase beta.

Sobol RW

Environmental and Molecular Mutagenesis, 2024

DNA polymerase beta connects tumorigenicity with the circadian clock in liver cancer through the epigenetic demethylation of Per1.

Chen S et al.

Cell Death & Disease, 2024

Genomic and biological aspects of resistance to selective poly(ADP-ribose) glycohydrolase inhibitor PDD00017273 in human colorectal cancer cells.

Tsuda K et al.

Cancer Reports (hoboken, N.j.), 2023

36053937 (PubMed )
Supplement: CNR2-6-e1709-s001.pdf

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc8.xlsx › BrM167

DNA Polymerase β in the Context of Cancer.

Sawyer DL et al.

Critical Reviews in Oncogenesis, 2022

DNA polymerase beta modulates cancer progression via enhancing CDH13 expression by promoter demethylation.

Wang M et al.

Oncogene, 2020

Chromatin and other obstacles to base excision repair: potential roles in carcinogenesis.

Caffrey PJ et al.

Mutagenesis, 2020

The double-edged sword of cancer mutations: exploiting neoepitopes for the fight against cancer.

Alvarado-Cruz I et al.

Mutagenesis, 2020

Base Excision Repair in the Immune System: Small DNA Lesions With Big Consequences.

Stratigopoulou M et al.

Frontiers in Immunology, 2020

Enhanced Activity of Variant DNA Polymerase β (D160G) Contributes to Cisplatin Therapy by Impeding the Efficiency of NER.

Wang M et al.

Molecular Cancer Research : Mcr, 2019

Stability and sub-cellular localization of DNA polymerase β is regulated by interactions with NQO1 and XRCC1 in response to oxidative stress.

Fang Q et al.

Nucleic Acids Research, 2019

Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Leong TL et al.

Oncogene, 2019

30348992 (PubMed )
Supplement: 41388_2018_536_MOESM6_ESM.xlsx › Germline_Variants

Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Liu J et al.

Journal of Cancer, 2019

Detection of Somatic Mutation in Exon 12 of DNA Polymerase β in Ovarian Cancer Tissue Samples

Khanra K et al.

Iranian Biomedical Journal, 2018

Remote Mutations Induce Functional Changes in Active Site Residues of Human DNA Polymerase β.

Eckenroth BE et al.

Biochemistry, 2017

DNA Polymerase Beta Germline Variant Confers Cellular Response to Cisplatin Therapy.

Nemec AA et al.

Molecular Cancer Research : Mcr, 2017

Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population.

Li P et al.

Chinese Medical Journal, 2016

Mutation of DNA Polymerase β R137Q Results in Retarded Embryo Development Due to Impaired DNA Base Excision Repair in Mice.

Pan F et al.

Scientific Reports, 2016

DNA polymerase β mutations and survival of patients with esophageal squamous cell carcinoma in Linzhou City, China.

Li M et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Cellular roles of DNA polymerase beta.

Ray S et al.

The Yale Journal of Biology and Medicine, 2013

Structural changes in the hydrophobic hinge region adversely affect the activity and fidelity of the I260Q mutator DNA polymerase β.

Gridley CL et al.

Biochemistry, 2013

Base excision repair and cancer.

Wallace SS et al.

Cancer Letters, 2012

Translesion DNA polymerases and cancer.

Makridakis NM et al.

Frontiers in Genetics, 2012

A germline polymorphism of DNA polymerase beta induces genomic instability and cellular transformation.

Yamtich J et al.

Plos Genetics, 2012

Genome instability caused by a germline mutation in the human DNA repair gene POLB.

Sobol RW

Plos Genetics, 2012

DNA base excision repair gene polymorphisms modulate human cognitive performance and decline during normal life span.

Lillenes MS et al.

Mechanisms of Ageing and Development, 2011

Systematic biochemical analysis of somatic missense mutations in DNA polymerase β found in prostate cancer reveal alteration of enzymatic function.

An CL et al.

Human Mutation, 2011

Predictive effects of ERCC1 and XRCC3 SNP on efficacy of platinum-based chemotherapy in advanced NSCLC patients.

Zhou C et al.

Japanese Journal of Clinical Oncology, 2010

Association between single-nucleotide polymorphisms of selected genes involved in the response to DNA damage and risk of colon, head and neck, and breast cancers in a Polish population.

Jelonek K et al.

Journal of Applied Genetics, 2010

Risk of malignant pleural mesothelioma and polymorphisms in genes involved in the genome stability and xenobiotics metabolism.

Gemignani F et al.

Mutation Research, 2009

Human DNA polymerase beta polymorphism, Arg137Gln, impairs its polymerase activity and interaction with PCNA and the cellular base excision repair capacity.

Guo Z et al.

Nucleic Acids Research, 2009

Population-specific variation in haplotype composition and heterozygosity at the POLB locus.

Yamtich J et al.

Dna Repair, 2009

Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif.

Makridakis NM et al.

Human Mutation, 2009

Genotyping panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis.

Sellick GS et al.

Blood, 2008

Genetic variation in the DNA repair genes is predictive of outcome in lung cancer.

Matakidou A et al.

Human Molecular Genetics, 2007

Polymorphisms of the DNA polymerase beta gene in breast cancer.

Sliwinski T et al.

Breast Cancer Research and Treatment, 2007

DNA repair and cell cycle control genes and the risk of young-onset lung cancer.

Landi S et al.

Cancer Research, 2006

DNA polymerases and human diseases.

Sweasy JB et al.

Radiation Research, 2006

Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.

Rudd MF et al.

Blood, 2006

Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer.

Moreno V et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

A database of single-nucleotide polymorphisms and a genotyping microarray for genetic epidemiology of lung cancer.

Landi S et al.

Experimental Lung Research, 2005

Identifying functional genetic variants in DNA repair pathway using protein conservation analysis.

Savas S et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004

Evaluation of a microarray for genotyping polymorphisms related to xenobiotic metabolism and DNA repair.

Landi S et al.

Biotechniques, 2003

Sporadic colorectal cancer and individual susceptibility: a review of the association studies investigating the role of DNA repair genetic polymorphisms.

Naccarati A et al.

Mutation Research, 0

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