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
-
PARP Inhibitors: An Interesting Pathway also for Non-Small Cell Lung Cancer?
Current Pharmaceutical Design The Complex Dynamics of Breast Cancer
Current Women`s Health Reviews Cervical Cancer Diagnosis: Insights into Biochemical Biomarkers and Imaging Techniques
Combinatorial Chemistry & High Throughput Screening Application of Microdialysis in Clinical Pharmacology
Current Clinical Pharmacology Matrixmetalloproteinase Inhibitors: Promising Therapeutic Targets Against Cancer
Current Pharmaceutical Design Editorial on the Occasion of the 20th Anniversary of Endocrine Metabolic Immune Disorders-Drug Targets Journal with a Kaleidoscopic Vision of Selected Publications
Endocrine, Metabolic & Immune Disorders - Drug Targets EGFR(s) in Aging and Carcinogenesis of the Gastrointestinal Tract
Current Protein & Peptide Science Viral Disorder or Disordered Viruses: Do Viral Proteins Possess Unique Features?
Protein & Peptide Letters New Approaches to Target Cancer Stem Cells: Current Scenario
Mini-Reviews in Medicinal Chemistry COX-2 Inhibition in Esophagitis, Barretts Esophagus and Esophageal Cancer
Current Pharmaceutical Design Preparation of Hymenialdisine, Analogues and Their Evaluation as Kinase Inhibitors
Current Medicinal Chemistry The Role of Natural Products in the Discovery of New Drug Candidates for the Treatment of Neurodegenerative Disorders I: Parkinsons Disease
CNS & Neurological Disorders - Drug Targets Do Epigenetic Marks Govern Bone Mass and Homeostasis?
Current Genomics A Perspective on Clinical Islet Transplantation: Past, Present and Developments for Future
Immunology, Endocrine & Metabolic Agents in Medicinal Chemistry (Discontinued) Angiotensin II, Cell Proliferation and Angiogenesis Regulator: Biologic and Therapeutic Implications in Cancer
Current Vascular Pharmacology Recombinant Human Insulin-Like Growth Factor-1: A New Cardiovascular Disease Treatment Option?
Cardiovascular & Hematological Agents in Medicinal Chemistry Challenges and Opportunities for Cancer Vaccines in the Current NSCLC Clinical Scenario
Current Topics in Medicinal Chemistry Evolution of Exenatide as a Diabetes Therapeutic
Current Diabetes Reviews Nanostructural Hybrid Sensitizers for Photodynamic Therapy
Current Pharmaceutical Design New Insights of CTLA-4 into Its Biological Function in Breast Cancer
Current Cancer Drug Targets