Abstract
The relationship between DNA repair failure and cancer is well established as in the case of rare, high penetrant genes in high cancer risk families. Beside this, in the last two decades, several studies have investigated a possible association between low penetrant polymorphic variants in genes devoted to DNA repair pathways and risk for developing cancer. This relationship would be also supported by the observation that DNA repair processes may be modulated by sequence variants in DNA repair genes, leading to susceptibility to environmental carcinogens. In this framework, the aim of this review is to provide the reader with the state of the art on the association between common genetic variants and cancer risk, limiting the attention to single nucleotide polymorphisms (SNPs) of the NBN gene and providing the various odd ratios (ORs). In this respect, the NBN protein, together with MRE11 and RAD50, is part of the MRN complex which is a central player in the very early steps of sensing and processing of DNA double-strand breaks (DSBs), in telomere maintenance, in cell cycle control, and in genomic integrity in general. So far, many papers were devoted to ascertain possible association between common synonymous and non-synonymous NBN gene polymorphisms and increased cancer risk. However, the results still remain inconsistent and inconclusive also in meta-analysis studies for the most investigated E185Q NBN miscoding variant.
Keywords: NBN, Polymorphisms, Cancer, DNA repair, DSBs, E185Q, SNPs.
Current Genomics
Title:NBN Polymorphysms and Cancer Susceptibility: A Systematic Review
Volume: 14 Issue: 7
Author(s): Francesco Berardinelli, Alessandra di Masi and Antonio Antoccia
Affiliation:
Keywords: NBN, Polymorphisms, Cancer, DNA repair, DSBs, E185Q, SNPs.
Abstract: The relationship between DNA repair failure and cancer is well established as in the case of rare, high penetrant genes in high cancer risk families. Beside this, in the last two decades, several studies have investigated a possible association between low penetrant polymorphic variants in genes devoted to DNA repair pathways and risk for developing cancer. This relationship would be also supported by the observation that DNA repair processes may be modulated by sequence variants in DNA repair genes, leading to susceptibility to environmental carcinogens. In this framework, the aim of this review is to provide the reader with the state of the art on the association between common genetic variants and cancer risk, limiting the attention to single nucleotide polymorphisms (SNPs) of the NBN gene and providing the various odd ratios (ORs). In this respect, the NBN protein, together with MRE11 and RAD50, is part of the MRN complex which is a central player in the very early steps of sensing and processing of DNA double-strand breaks (DSBs), in telomere maintenance, in cell cycle control, and in genomic integrity in general. So far, many papers were devoted to ascertain possible association between common synonymous and non-synonymous NBN gene polymorphisms and increased cancer risk. However, the results still remain inconsistent and inconclusive also in meta-analysis studies for the most investigated E185Q NBN miscoding variant.
Export Options
About this article
Cite this article as:
Berardinelli Francesco, Masi di Alessandra and Antoccia Antonio, NBN Polymorphysms and Cancer Susceptibility: A Systematic Review, Current Genomics 2013; 14 (7) . https://dx.doi.org/10.2174/13892029113146660012
DOI https://dx.doi.org/10.2174/13892029113146660012 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Better Targeting Melanoma: Options Beyond Surgery and Conventional Chemotherapy
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Arginine Deprivation, Autophagy, Apoptosis (AAA) for the Treatment of Melanoma
Current Molecular Medicine Cancer Stem Cells: The ‘Achilles Heel’ of Chemo-Resistant Tumors
Recent Patents on Anti-Cancer Drug Discovery Absorption, Disposition and Pharmacokinetics of Solid Lipid Nanoparticles
Current Drug Metabolism Antibody Targeting of TGF-β in Cancer Patients
Current Pharmaceutical Biotechnology Editorial: Adjuvant Systemic Treatment Strategy for Early Breast Cancer
Medicinal Chemistry Cellular and Biochemical Alterations Caused by Artificial Depletion of Glutathione
Current Enzyme Inhibition Oxidative Stress, Redox Signaling and Cancer Chemoresistance: Putting Together the Pieces of the Puzzle
Current Medicinal Chemistry Diagnostic and Therapeutic Use of Human Recombinant Thyrotropin (rhTSH)(Thyrogen®) in Well-Differentiated Thyroid Cancer - Current Indications and Future Perspectives - A Review
Current Pharmaceutical Analysis The Role of NF-κB Inhibitors in Cell Response to Radiation
Current Medicinal Chemistry Functional Relevance of Biased Signaling at the Angiotensin II Type 1 Receptor
Endocrine, Metabolic & Immune Disorders - Drug Targets A Pharmacological Review of Five Widely Used Traditional Medicinal Plants for Sedative-Hypnotic Effects in Bangladesh
Current Traditional Medicine EGFR and the Complexity of Receptor Crosstalk in the Cardiovascular System
Current Molecular Medicine Traditional Chinese Medicines (TCMs) for Molecular Targeted Therapies of Tumours
Current Drug Discovery Technologies Blockade of Furin Activity and Furin-Induced Tumor Cells Malignant Phenotypes By The Chemically Synthesized Human Furin Prodomain
Current Medicinal Chemistry Established and In-trial GPCR Families in Clinical Trials: A Review for Target Selection
Current Drug Targets Plant Proteomics Databases: Their Status in 2005
Current Bioinformatics Strategies for Non-Invasive Molecular Imaging of Acute Allograft Rejection by Gamma Scintigraphy and Positron Emission Tomography
Current Radiopharmaceuticals Gamma-Oryzanol – A Multi-Purpose Steryl Ferulate
Current Nutrition & Food Science Targeting the Hedgehog Signaling Pathway with Small Molecules
Anti-Cancer Agents in Medicinal Chemistry