Genetic Polymorphism and cancer susceptibility

✍ Scribed by Aga Syed Sameer (editor), Mujeeb Zafar Banday (editor), Saniya Nissar (editor)

• Publisher: Springer
• Year: 2021
• Tongue: English
• Leaves: 353
• Category: Library

✦ Synopsis

This book discusses the role of genetic polymorphism in susceptibility to cancers. The book explores the understanding of differences between the genetic polymorphisms and mutations.It reviews the mechanisms underlying the effect of polymorphism in genes encoding proteins that play an essential role in metabolism, signal transduction, cell cycle, and DNA repair mechanisms. Further, it investigates various techniques that are used for analyzing the genetic polymorphisms. The book contains many chapters which summarize the importance of genetic information obtained from polymorphism-based pharmaco-genetic tests to predict better drug response and life-threatening adverse reactions to chemotherapeutic agents, help in understanding of the impact of SNPs on gene function, and gives overview of the different SNP databases for examination. This book, therefore, serves as an essential guidebook for independent researchers as well as institutions working in this specialised field.

✦ Table of Contents

Foreword 1
Foreword 2
Foreword 3
Preface
Acknowledgements
Contents
Editors and Contributors
1: Mutations and Polymorphisms: What Is The Difference?
1.1 Introduction
Box 1.1 Introduction to Human DNA
Box 1.2 Definitions of Common Terms Used in Genetics
1.2 Mutations
1.3 Genetic Polymorphisms
1.3.1 Types of Polymorphisms
1.3.2 Applications of SNPs
1.4 Conclusions
References
2: Single Nucleotide Polymorphisms and Pharmacogenomics
2.1 Introduction
2.2 Techniques for the Identification of SNPs
2.2.1 Single Strand Conformation Polymorphisms (SSCPs)
2.2.1.1 Hetero-Duplex Analysis
2.2.2 Direct DNA Sequencing
2.2.3 Variant Detector Arrays
2.2.4 DNA Microarray Technology
2.2.4.1 SNPs and Tailored Medication
2.2.4.2 Inter-Individual Variability in Drug Response
2.3 Factors Leading to Variation in Inter-Individual Drug Response
2.4 Inter-Individual Drug Response Determinants
2.5 Application of SNPs in Clinical Trails
2.6 Utilizing SNP Maps in Pharmaco-Genomics
2.6.1 Candidate Gene Approach
2.6.2 Linkage Disequilibrium Mapping
2.7 Pharmaco-Genomic Effects of SNPs
2.7.1 Pharmaco-Genomic Effects of Cytochrome P450 SNPs
2.7.2 Pharmaco-genomic effects of Thiopurine Methyltransferase (TPMT) SNPs
2.7.3 Pharmaco-Genomic Effects of N-Acetyl Transferase 2 (NAT2) SNPs
2.7.4 Pharmaco-Genomic Effects of Uridine Diphosphate Glucuronosyltransferase1A1 (UGT1A1) SNPs
2.7.5 Pharmaco-Genomic Effects of Dihydropyrimidine Dehydrogenase (DPYD) SNPs
2.8 Cancer Pharmaco-Genetics and Treatment
2.9 Limitations of Using SNPs as a Pharmaco-Genomic Analytical Tool
2.10 Conclusion
References
3: Impact of MicroRNA Polymorphisms on Breast Cancer Susceptibility
3.1 Introduction
3.1.1 Brief Overview of History and Biogenesis of MicroRNA(miRNA)
3.1.2 Functional Abilities of MicroRNA(miRNA)
3.1.3 miRNA in Human Cancer
3.1.4 miRNA and Other Human Diseases
3.2 Polymorphism in miRNA and Cancer
3.2.1 SNPs in miRNA Biogenesis Genes and Breast Cancer
3.2.2 SNPs in miRNA 3′UTR Region and Breast Cancer
3.2.3 SNPs in Pri-, Pre-, Mature miRNA and Breast Cancer Susceptibility
3.2.4 SNPs in miRNA-Coding Genes
3.3 Therapeutic Implications of miRNA
3.4 Conclusion and Future Prospects
References
4: From Inflammation to Cancer: Role of Genetic Polymorphisms of Inflammatory Pathway Molecules in Gastric Cancer
4.1 Introduction
4.1.1 Classifications
4.1.1.1 Histological Classifications
4.1.1.2 Anatomical Classifications
4.1.2 Grading of Gastric Cancer
4.1.3 Risk Factors
4.1.3.1 Helicobacter Pylori Infection and Pathogenesis
4.1.3.2 Other Risk Factors
4.2 Pathogenesis of Gastric Cancer
4.3 Molecular Basis of Gastric Carcinogenesis
4.3.1 Hereditary Genetic Factors
4.3.2 Acquired Genetic Factors
4.4 Single Nucleotide Polymorphisms and Gastric Cancer
4.4.1 Polymorphisms in Cytokine Genes
4.4.1.1 Interleukin 1 Gene
4.4.1.2 Interleukin 8 Gene
4.4.1.3 Interleukin 10 Gene
4.4.1.4 Interleukin 17 Gene
4.4.1.5 Tumor Necrosis Factor-Alpha
4.4.2 Polymorphisms in Mucin Genes
4.4.3 Polymorphisms in E-Cadherin Gene
4.5 Conclusion
References
5: Colorectal Cancer and Genetic Polymorphism in Key Regulatory Low Penetrance Genes
5.1 Introduction
5.1.1 Epidemiology
5.1.1.1 Etiology
5.1.1.2 Incidence, Mortality and Changing Trends
5.1.1.3 Survival
5.1.1.4 Risk Modulation Factors
Non-Modifiable or Unchangeable Risk Modulation Factors
Modifiable or Changeable Risk Modulation Factors
5.1.2 Classification and Grading
5.2 Genetic Background of Colorectal Cancer
Box 5.1 Adenoma-Carcinoma Sequence (Vogelstein Model)-Main Features
5.2.1 Chromosomal Instability (CIN) Pathway
5.2.2 Microsatellite Instability (MSI) Pathway
5.2.3 CpG Island Methylator Phenotype (CIMP) Pathway
5.3 Polymorphisms and Colorectal Cancer
5.3.1 Polymorphisms in Cell Cycle Regulatory Genes
5.3.1.1 APC Gene Polymorphisms
5.3.1.2 CCDN1 Gene Polymorphisms
5.3.1.3 CHEK2 Gene Polymorphisms
5.3.2 Polymorphisms in Transcription Regulating Genes
5.3.2.1 TP53 (P53) Gene Polymorphisms
5.3.2.2 MDM2 Gene Polymorphisms
5.3.2.3 VDR Gene Polymorphisms
5.3.2.4 PPARG Gene Polymorphisms
5.3.3 Polymorphisms in DNA Repair Pathway Genes
5.3.3.1 OGG1 Gene Polymorphisms
5.3.3.2 XRCC1 Gene Polymorphisms
5.3.3.3 XRCC3 Gene Polymorphisms
5.3.3.4 RAD51 Gene Polymorphisms
5.3.3.5 XPD (ERCC2) Gene Polymorphisms
5.3.4 Polymorphisms in Folate Metabolism Genes
5.3.4.1 MTHFR Gene Polymorphisms
5.3.4.2 TYMS/TS Gene Polymorphisms
5.3.4.3 MTR Gene Polymorphisms
5.3.4.4 MTRR Gene Polymorphisms
5.4 Conclusion
References
6: Role of Genetic Polymorphisms in Breast Cancer
6.1 Introduction
6.1.1 Types
6.1.2 Classification and Grading
6.1.3 Risk Factors
Box 6.1: Breast Cancer Patients Generally Show the Following Symptoms
6.2 Genetic Background of Breast Cancer
6.3 Genetic Polymorphisms in Breast Cancer
6.3.1 SNPs in DNA Repair Pathway Genes
6.3.1.1 OGG1
6.3.1.2 RAD51
6.3.1.3 XPD
6.3.1.4 XRCC3
6.3.1.5 hMSH2 Gene
6.3.2 Vitamin D Receptor Gene
6.3.2.1 BRCA2
6.3.2.2 BRCA1
6.3.3 SNPs in Transcription Regulating Genes
6.3.3.1 TP53
6.3.3.2 PIK3CA
6.3.3.3 ERα and ERβ
6.3.4 SNPs in Xenobiotic Metabolism Genes
6.3.4.1 CYP1A1
6.3.4.2 GST
6.3.4.3 COMT
6.3.5 SNPs in Cell Cycle Regulatory Genes
6.3.5.1 CCND1
6.3.5.2 CDKN1B (p27)
6.3.5.3 ATM
6.3.5.4 Her2
6.3.5.5 TGF-β1
6.3.5.6 pTEN mTOR
6.4 Conclusion
References
7: Genetic Polymorphisms of Essential Immune Pathogenic Response Genes and Risk of Cervical Cancer
7.1 Introduction
7.1.1 Risk Factors
7.1.2 Types, Classification, and Grading
7.2 Genetics of Cervical Cancer
7.2.1 HPV Pathogenesis
7.3 Polymorphisms and Cervical Cancer
7.3.1 Polymorphisms in Immune Response Genes
7.3.1.1 TNF-α
7.3.1.2 IFN-γ
7.3.1.3 CTLA-4
7.3.1.4 IL-1β
7.3.1.5 IL-10
7.3.1.6 IL-12
7.3.1.7 HLA
7.3.2 Polymorphisms in Pathogen Response Genes
7.3.2.1 TLR2
7.3.2.2 TLR3
7.3.2.3 TLR4
7.3.2.4 TLR9
7.3.3 Polymorphisms in Apoptosis Related Genes
7.3.3.1 FAS
7.3.3.2 FASL
7.3.3.3 CASP8
7.3.3.4 TP53
7.3.3.5 MDM2
7.3.4 Polymorphisms in Antigen-Processing Genes
7.3.4.1 LMP
7.3.4.2 Tap
7.3.4.3 ERAP
7.4 Conclusion
References
8: Thyroid Cancer and SNPs
8.1 Introduction
8.2 Thyroid Cancer (TC)
8.2.1 Classification of Thyroid Tumors (AFIP)
8.2.1.1 Primary Tumors
Epithelial Tumors
Tumors of Follicular Cells
Benign
Follicular Adenoma
Malignant
Differentiated Thyroid Carcinoma (DTC)
Follicular ThyroidCarcinoma (FTC)
Papillary ThyroidCarcinoma (PTC)
Hürthle Cell Carcinoma (HCC)
Poorly Differentiated Thyroid Carcinoma (PDTC)
Undifferentiated (Anaplastic) Carcinoma
Tumors of C Cells and Their Variants
Medullary Thyroid Carcinoma (MTC)
Mixed Follicular Parafollicular Carcinoma
8.2.1.2 Thyroid Sarcomas
8.2.1.3 Malignant Lymphomas
8.2.1.4 Secondary Tumors of the Thyroid
8.2.2 Staging of Thyroid Carcinoma
8.2.3 Risk Factors of Thyroid Carcinoma
8.2.3.1 Gender and Age
8.2.3.2 Ethnic Differences
8.2.3.3 Previous Exposure to Ionizing Radiation
8.2.3.4 Age at the Time of Irradiation
8.2.3.5 Previous History of Benign Thyroid Disease (BTD)
8.2.3.6 Contribution of Iodine in the Food
8.2.3.7 Body Mass Index
8.2.3.8 Hormonal Factors
8.2.3.9 Smoking Status
8.2.3.10 Oxidative Stress (OS)
8.3 Genetic Basis of Thyroid Cancer
8.3.1 Genetic Alterations in Signaling Pathways in TC
8.3.1.1 Cyclic AMP (cAMP) Cascade
8.3.1.2 MAP Kinase Signaling Pathway
8.4 Genetic Polymorphisms in Thyroid Cancer
8.4.1 HRAS (Harvey Rat Sarcoma)
8.4.1.1 Structure and Function of HRAS
8.4.1.2 Reported SNPs in HRAS Gene
8.4.1.3 HRAS T81C Gene Polymorphism in TC
8.4.2 RET (Rearranged During Transfection)
8.4.2.1 Structure and Biology of RET Receptor
8.4.2.2 Polymorphisms and Haplotypes in RET
8.4.2.3 RET Polymorphisms and Haplotypes in TC
8.4.3 TP53 (Tumor Protein 53)
8.4.3.1 Structure and Function of P53 Protein
8.4.3.2 Polymorphisms That Alter the Coding Sequence of p53 Protein
The Serine 47 Polymorphism
The Codon 72 (Arg72Pro) Polymorphism and Its Impact on Cancer Risk
8.4.3.3 TP53 Gene Polymorphisms in TC
8.4.4 XRCC1 (X-Ray Repair Cross-Complementing Protein 1)
8.4.4.1 XRCC1 Protein Structure
8.4.4.2 Reported SNPs in the XRCC1 Gene
8.4.4.3 TC and XRCC1 Polymorphisms
8.4.5 XRCC3 (X-Ray Repair Cross-Complementing Protein 3) Gene
8.4.5.1 Structure and Function of XRCC3 Protein
8.4.5.2 Polymorphisms in XRCC3 Gene
8.4.5.3 XRCC3 Polymorphisms and TC
8.4.6 The Xeroderma Pigmentosum Group D (XPD) Gene
8.4.6.1 XPD: Structure and Function
8.4.6.2 The XPD Gene and Its SNPs
8.4.6.3 XPD Polymorphism and TC
8.4.7 Thyroid-Stimulating Hormone Receptor (TSHR) Gene
8.4.7.1 Structural-Functional Features of the Thyrotropin Receptor
8.4.7.2 Thyrotropin Receptor Polymorphisms
8.4.7.3 TSHR Polymorphism in TC
8.5 Conclusions
References
9: The Role of Toll-Like Receptor (TLR) Polymorphisms in Urinary Bladder Cancer
9.1 Introduction
9.2 Urinary System and Urinary Bladder Cancer
9.3 Urinary Bladder Cancer Risk Factors
9.4 Urinary Bladder Cancer: Types and Variants
9.5 Urinary Bladder Cancer: Classification and Grading
9.6 Toll-Like Receptors and Signaling Pathways
9.7 MyD88-Dependent Pathway
9.8 MyD88-Independent (TRIF-Dependent) Pathway
9.9 Toll-Like Receptors and Trafficking
9.10 Toll-Like Receptors and Urinary Bladder Cancer
9.11 Single Nucleotide Polymorphism in Toll-Like Receptors and Urinary Bladder Cancer
9.11.1 TLR1
9.11.1.1 Structure and Function
9.11.1.2 TLR1 SNPs and Their Role
9.11.1.3 TLR1 SNP in Urinary Bladder Cancer
9.11.2 TLR2
9.11.2.1 Structure and Function
9.11.2.2 TLR2 SNPs and Their Role
9.11.2.3 TLR2 SNP in Urinary Bladder Cancer
9.11.3 TLR3
9.11.3.1 Structure and Function
9.11.3.2 TLR3 SNPs and Their Role
9.11.3.3 TLR3 SNP in Urinary Bladder Cancer
9.11.4 TLR4
9.11.4.1 Structure and Function
9.11.4.2 TLR4 SNPs and Their Role
9.11.4.3 TLR4 SNP in Urinary Bladder Cancer
9.11.5 TLR5
9.11.5.1 Structure and Function
9.11.5.2 TLR5 SNPs and Their Role
9.11.5.3 TLR5 SNP in Urinary Bladder Cancer
9.11.6 TLR6
9.11.6.1 Structure and Function
9.11.6.2 TLR6 SNPs and Their Role
9.11.6.3 TLR6 SNP in Urinary Bladder Cancer
9.11.7 TLR7
9.11.7.1 Structure and Function
9.11.7.2 TLR7 SNPs and Their Role
9.11.7.3 TLR7 SNP in Urinary Bladder Cancer
9.11.8 TLR8
9.11.8.1 Structure and Function
9.11.8.2 TLR8 SNPs and Their Role
9.11.8.3 TLR8 SNP in Urinary Bladder Cancer
9.11.9 TLR9
9.11.9.1 Structure and Function
9.11.9.2 TLR9 SNPs and Their Role
9.11.9.3 TLR9 SNP in Urinary Bladder Cancer
9.11.10 TLR10
9.11.10.1 Structure and Function
9.11.10.2 TLR10 SNPs and Their Role
9.11.10.3 TLR10 SNP in Urinary Bladder Cancer
9.12 Conclusion
References
10: Genetic Polymorphism and Their Role in Lung Cancer
10.1 Introduction
10.2 Lung Cancer and Its Types
10.3 Risk Factors of Lung Cancer
10.3.1 Smoking
10.3.2 Second Hand Smoke/Environmental Tobacco Smoke (ETS)
10.3.3 Air Pollution
10.3.3.1 Indoor Pollution
10.3.3.2 Outdoor Pollution
10.3.4 Occupational Exposure
10.3.5 Diet
10.3.6 Infections
10.3.7 Gender Differences
10.4 Polymorphism and Lung Cancer
10.4.1 Polymorphism in Major Biological Pathways for Lung Carcinogenesis
10.4.1.1 Xenobiotic Pathway
10.4.1.2 DNA Damage Repair Pathway
10.4.1.3 TP53 Pathway
Pro47Ser
Arg72Pro
10.4.1.4 Inflammatory Pathways
10.4.1.5 IL-1β and IL1RN
10.4.1.6 IL 4
10.4.1.7 IL-6
10.4.1.8 IL-8
10.4.1.9 IL-10
10.4.1.10 TNF-Alpha
10.4.1.11 IFN Gama
10.4.1.12 COX-2
10.4.1.13 TLR4
10.5 Conclusion
References