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I really feel honored to present this foreword and introduce this book edited by a
dedicated team and wish this book and the editors all the success.
Department of General and
Minimal Invasive Surgery and Colorectal Surgery
Sher-i-Kashmir Institute of Medical Sciences
Srinagar, J&K, India
Nisar A. Chowdri
xii Foreword 3
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Preface
The human genome, as the genome of any other species, encodes the necessary
information, which determines the phenotypic characteristics of an individual and the
differences in these characteristics, the individual exhibits, in comparison to other
individuals. The inherent property of the genome, which determines these differences,
is termed as genetic variation. The human genome, indeed, exhibits a dynamic
variation between different individuals and across different geographical and/or
racial/ethnical populations. However, human genome has remained well conserved
throughout the period of human evolution and the DNA of two individuals differs
only by around 0.5%, which means that the DNA of two individuals is almost 99.5%
identical and the genetic variation accounts for only about 0.1–0.4 % of the total
genomic DNA or genome. Gene/genetic polymorphism is the most common and
dynamic form of genetic variation present throughout the human genome and
represents the most common type of sequence variation. The most prevalent type of
gene polymorphism is the single nucleotide polymorphism (SNP), which accounts for
more than 90% of all the human genetic variations. Single nucleotide polymorphisms,
therefore, represent a major source of genetic variations present in the human genome
and play a crucial role in determining the interindividual phenotypic differences.
Among the varied roles played by single nucleotide polymorphisms (SNPs) in
regulating various interindividual phenotypic differences, the role of SNPs in
predicting or indicating or indeed deter mining the risk of development and progres-
sion of various diseases in humans including various cancers is of greatest impor-
tance. Not only the susceptibility of individuals towards various diseases but SNPs
may also modulate the response of different individuals to environmental stresses
and treatment of diseases by various drugs. Therefore, the deep understanding of the
polymorphisms as important genetic variation and in particular SNPs becomes
imperative for the evolutionary and population geneticists not only to understand
the disease mechanisms but also to affect the development of precision
(personalized) medicine. However, the actual role played by various SNPs in
regulating the interindividual phenotypic differences including the differences in
disease susceptibility, responses to the drugs, and the mechanisms involved thereof
is still work in progress and a lot needs to be done in this regard.
Our book entitled, “Genetic Polymorphisms and Cancer Susceptibility” aims to
bring together and provide an overview of the important roles played by genetic
xiii
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polymorphisms especially single nucleotide polymorphisms (SNPs) in determining
the risk of development and progression of various human cancers. The introductory
chapter of this book (Chapter 1: Polymorphisms and Mutation: What Is difference?)
provides a brief insight into various types of genetic variations with emphasis on
gene polymorphism especially SNPs and how gene polymorphisms differ from gene
mutations. The second chapter (Chapter 2: Single Nucleotide Polymorphisms and
Pharmacogenomics) describes the role and possible applications of SNPs in
pharmacogenomics including the role played by SNPs in modulating the drug
response. The third chapter of this book (Chapter 3: Breast Cancer Susceptibility
and MicroRNA Polymorphisms) discusses the possible association between SNPs in
microRNAs, known as “polymirs” and the risk of development and progression of
breast cancer. The fourth chapter of this book (Chapter 4: Gastric Cancer: Role of
Genetic Polymorphisms of Inflammatory Pathway Molecules) describes the role
played by various SNPs in the various genes especially those involved in the
inflammatory response to Helicobacter pylori infection and their possible role in
modulating the risk of development and progression of gastric cancer. The fifth
chapter (Chapter 5: Colorectal Cancer and Genetic Polymorphism in Key Regu-
latory Low Penetrance Genes) provides a detailed description of colorectal cancer
and the possible role of various SNPs especially in key regulatory but low penetrance
genes in modifying the susceptibility towards development and progression of
colorectal cancer. The sixth chapter of this book (Chapter 6: Role of Genetic
Polymorphisms in Breast Cancer) discusses various SNPs which have been associated
with an increased risk of breast cancer and some of which could possibly serve as
potential biomarkers for early diagnosis and personalized targeted therapy of the
disease. The seventh chapter (Chapter 7: Cervical Cancer and Genetic
Polymorphisms of Essential Immune Pathogenic Response Genes) describes the role
of various SNPs in several immune pathogenic response genes in modulating the risk
of development and progression of cervical cancer. The eighth chapter (Chapter 8:
Thyroid Cancer and Genetic Polymorphism) provides a brief insight into genetic
characterization of thyroid cancer and discusses the role of various SNPs in thyroid
cancer risk modulation, diagnosis, and therapeutics. The ninth chapter (Chapter 9:
Bladder Cancer and the Role of Toll-Like Receptor (TLR) Polymorphisms) discusses
the possible role of various polymorphisms in toll-like receptor (TLR) genes in
modulating the risk of bladder cancer. The final and tenth chapter of this book
(Chapter 10: Genetic Polymorphisms and their Role in Lung Cancer) describes the
role of various SNPs in genes, which play important roles in various major lung cancer
pathways.
We hope our effort in the form of this book will emerge as a valuable resource of
research-based knowledge for professionals, researchers, students, and everyone else
in the field.
Jeddah, Saudi Arabia Aga Syed Sameer
Srinagar, Jammu and Kashmir, India Mujeeb Zafar Banday
Srinagar, Jammu and Kashmir, India Saniya Nissar
November 2020
xiv Preface
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Acknowledgements
Foremost, we would like to express our sincere gratitude and reverence to all the
authors whose contribution made the pursuit of this book possible and the overall
experience very knowledgeable. We are grateful to all of them for being patient
enough with our constant demands and for toiling hard enough to make the inclusion
of their contribution in this book possible.
We also thank all our supervisors, co-supervisors, and mentors whose advice,
encouragement, tolerance, and freedom of work made us who we are today. Their
judicious guidance, innovative ideas, spotless suggestion, and constant encourage-
ment are duly acknowledged.
We, Dr. Sameer and Dr. Saniya, would like to express our deep sense of gratitude
and appreciation to Prof. Mushtaq A. Siddiqi, Vice-Chancellor, Islamic University
of Science and Technology, Awantipora, Kashmir, for being an extremely
inspirational, motivating, and educative person in our lives. Combined with his
friendly nature and discipline, he has been approachable at any time, providing
instant support and guidance throughout our initial stages of research work.
I, Dr. Mujeeb, would like to express my gratitude to my supervisor, Dr.
Ehtishamul Haq, Associate Professor, Department of Biotechnology, University of
Kashmir Hazratbal, Kashmir, for his guidance and support, which have been invalu-
able not only in work but also in various other aspects of life.
I, Dr. Saniya would extend my sincere thanks to Dr. Fouzia Rashid, Assistant
Professor, Department of Clinical Biochem istry, University of Kashmir, Hazratbal,
Kashmir for her excellent support, supervision, and guidance throughout my
research period. I am highly thankful to her for inspiring, motivating, and helping
me during my research days through thick and thin of the lab work and in life in
general.
We all also feel delighted in expressing our sincere thanks to Dr. Nissar A.
Chowdri, Professor and Head, Department of General and Minimal Invasive Surgery
and Department of Colorectal Surgery, SKIMS, Soura, Srinagar, for his continuous
support and encouragement. He has been keenly interested in our work right from
the initial stages of our research in SKIMS and University of Kashmir. We also owe
our sincere gratitude to Dr. Fazl Q. Parray, Professor, Department of General and
Minimal Invasive Surgery, Sher-i -Kashmir Institute of Medical Sciences (SKIMS),
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Soura, Srinagar, for his lifelong mentorship and his keen interest in our work right
from the initial stages.
We also extend our deep respect and appreciation to all the authors who
contributed their valuable work for this book and did exhaustively respond to each
editorial demand which we put forth during the writing and editing phase. These
eight months’ journey was a long toil for which we thank all of you.
We emphatically owe our profound gratitude to Dr. Bhavik Sawhney and Ms.
Priya Shankar at Springer Nature, who were very kind and cooperative throughout
the period of this endeavor.
We would like to express our heartfelt thanks to our friends for being the moral
support ever and always and for being the factor who inculcated in us the resilient
spirit to pursue our professional and personal goals.
Last but not least, we are also immensely indebted to our parents and siblings for
their support and giving us the strength of will to pursue what we believed and
because of which we have reached this stage of life where we are able to contribute
something substantial.
xvi Acknowledgements
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Contents
1 Mutations and Polymorphisms: What Is The Difference? ........ 1
Aga Syed Sameer, Mujeeb Zafar Banday, and Saniya Nissar
2 Single Nucleotide Polymorphisms and Pharmacogenomics ....... 23
Azher Arafah, Shafat Ali, Sabhiya Majid, Samia Rashid,
Shabhat Rasool, Hilal Ahmad Wani, Iyman Rasool,
and Muneeb U. Rehman
3 Impact of MicroRNA Polymorphisms on Breast Cancer
Susceptibility .......................................... 53
Nusrath Yasmeen, Vikram Kumar, and Krutika Darbar Shaikh
4 From Inflammation to Cancer: Role of Genetic Polymorphisms
of Inflammatory Pathway Molecules in Gastric Cancer .......... 79
Israa Abdullah Malli
5 Colorectal Cancer and Genetic Polymorphism in Key Regulatory
Low Penetrance Genes .................................. 119
Mujeeb Zafar Banday, Aga Syed Sameer, and Saniya Nissar
6 Role of Genetic Polymorphisms in Breast Cancer .............. 165
Mohammad Rafiq Wani
7 Genetic Polymorphisms of Essential Immune Path ogenic Response
Genes and Risk of Cervical Cancer ......................... 191
Saniya Nissar, Aga Syed Sameer, and Mujeeb Zafar Banday
8 Thyroid Cancer and SNPs ................................ 235
Mosin S. Khan and Sy ed Mudassar
9 The Role of Toll-Like Receptor (TLR) Polymorphisms in Urinary
Bladder Cancer ........................................ 281
Payam Behzadi
10 Genetic Polymorphism and Their Role in Lung Cancer ......... 319
Sheikh M. Shaffi
xviixvii
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Editors and Contributors
About the Editors
Aga Syed Sameer is currently working as an Assistant Professor of Biochemistry
in the Department of Basic Medical Sc iences, College of Medicine, King Saud bin
Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia. He is also serving
as the Chairman of the Quality Unit in College of Medicine, KSAU-HS. He is a
lifetime member of many societies related to genetics, molecular biology, and
medical education like the Association of Clinical Biochemists of India, Society of
Indian Academy of Medical Genetics, Middle East Molecular Biology Sources,
Asian Council of Science Editors, Saudi Society of Medical Education, etc. He is
also serving as the Associate Editor in four Journals, Frontiers in Oncology—
Molecular Biosciences section, BioMed Research International, World Journal of
Biological Chemistry, and Current Drug Metabolism. He also serves as a full-time
reviewer for various journals including European Journal of Cancer Prevention
(Lippincott Williams & Wilkins), PLOS One and PLOS Genetics (Public Library
of Science), World Journal of Gastroenterology (Baishideng Publishing), Gene and
Meta Gene (Elsevier Publishing), Bioscience Reports (Portland Press), Journal of
Clinical Laboratory Analysis (John Wiley & Sons), Tumor Biology (Sage Journals),
etc. His research interests are focused on cancer biology and he has published more
than seventy-five research and review articles in high repute journals with an h-index
of 20 and authored ten books.
Mujeeb Zafar Banday is presently working as a Senior Researcher and Lecturer in
the Department of Biochemistry, Govt. Medical College, Srinagar. He has
completed his Ph.D., M.Phil., and M.Sc. in Biochemistry from the University of
Kashmir, J&K, India. He is serving as the review editor and associate reviewer for
the journal, Frontiers in Oncology—Cancer Epidemiology and Prevention (Frontiers
Group) and full-time reviewer for various journals including Gene (Elsevier Pub-
lishing), Bioscience Rep orts (Portland Press), BioMed Research International
(Hindawi Publishing), and Toxicology and Environmental Health Sciences Review
(Springer Nature). He has authored more than twenty research and review articles
and three books.
xixxix
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Saniya Nissar is presently working as a Senior Researcher and Lecturer in the
Department of Biochemistry, Govt. Medical College, Srinagar. She has completed
her PhD, MPhil, and MSc in clinical biochemistry from the University of Kashmir,
J&K, India. She works as freelance scientific content writer with many scientific
magazines. She has published more than thirty resear ch and review articles and
authored four books.
Contributors
Shafat Ali Cytogenetics and Molecular Biology Laboratory, Centre of Research for
Development, University of Kashmir, Hazratbal, Srinagar, Jammu and Kashmir,
India
Department of Biochemistry, Government Medical College (GMC-Srinagar) &
Associated SMHS Hospital, Karan Nagar, Srinagar, Jammu and Kashmir, India
Azher Arafah Department of Clinical Pharm acy, College of Pharmacy, King Saud
University, Riyadh, Saudi Arabia
Mujeeb Zafar Banday Department of Biochemistry, Government Medical Col-
lege, Srinagar, Kashmir, India
Payam Behzadi Department of Microbiology, College of Basic Sciences, Shahr-e-
Qods Branch, Islamic Azad University, Tehran, Iran
Mosin S. Khan Department of Biochemistry, Government Medical College
Srinagar & Associated Hospitals, Srinagar, Jammu and Kashmir, India
Department of Clinical Biochemistry, Sher-I-Kashmir Institute of Medical Sciences
(SKIMS), Srinagar, Kashmir, India
Vikram Kumar Faculty of Biotechnology, Amity Institute of Biotechnology,
Amity University Rajasthan, Jaipur, India
Sabhiya Majid Department of Biochemistry, Government Medical College
(GMC-Srinagar) & Associated SMHS Hospital, Karan Nagar, Srinag ar, Jammu
and Kashmir, India
Israa Abdullah Malli Department of Basic Medical Sciences, College of Medi-
cine-Jeddah, King Saud Bin Abdulaziz University for Health, King Abdulaziz
Medical City, Ministry of National Guard—Health Affairs, Jeddah, Saudi Arabia
Syed Mudassar Department of Clinical Biochemistry, Sher-I-Kashmir Institute of
Medical Sciences (SKIMS), Srinagar, Kashmir, India
Saniya Nissar Department of Biochemistry, Government Medical College,
Srinagar, Kashmir, India
xx Editors and Contributors
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Samia Rashid Department of Medicine, Government Medical College (GMC-
Srinagar) & Associated SMHS Hos pital, Karan Nagar, Srinagar, Jammu and
Kashmir, India
Iyman Rasool Departmentof ENT, GovernmentMedical College (GMC-Baramulla),
Kanth Bagh, Srinagar, Jammu and Kashmir, India
Shabhat Rasool Department of Biochemistry, Government Medical College
(GMC-Srinagar) & Associated SMHS Hospital, Karan Nagar, Srinag ar, Jammu
and Kashmir, India
Muneeb U. Rehman Department of Clinical Pharmacy, College of Pharmacy,
King Saud University, Riyadh, Saudi Arabia
Department of Biochemistry, Government Medical College (GMC-Srinagar) &
Associated SMHS Hospital, Karan Nagar, Srinagar, Jammu and Kashmir, India
Aga Syed Sameer Basic Medical Sciences, College of Medicine, King Saud bin
Abdulaziz University for Health Sciences (KSAU-HS), Jeddah, Saudi Arabia
King Abdullah International Medical Research Centre (KAIMRC), National Guard
Health Affairs (NGHA), Jeddah, Saudi Arabia
Sheikh M. Shaffi Department of Biochemistry, Government Medical College,
Anantnag, Jammu and Kashmir, India
Krutika Darbar Shaikh King Abdullah International Medical Research Centre
(KAIMRC), National Guards Health Affairs, Jeddah, Saudi Arabia
Faculty of Anatomy, University College of Pre-Professional Studies, King Saud Bin
Abdul Aziz University for Health Sciences, Jeddah, Saudi Arabia
Hilal Ahmad Wani Department of Biochemistry, Government Medical College
(GMC-Srinagar) & Associated SMHS Hospital, Karan Nagar, Srinagar, Jammu and
Kashmir, India
Mohammad Rafiq Wani Section of Genetics, Department of Zoology, Aligarh
Muslim University, Aligarh, Uttar Pradesh, India
Nusrath Yasmeen Amit y Institute of Biotec hnology, Amity University, Jaipur,
Rajasthan, India
Faculty of Pharmacology, College of Nursing, King Saud Bin Abdul Aziz Univer-
sity for Health Sciences, King Abdullah International Medical Research Centre
(KAIMRC), National Guard Health Affairs, Jeddah, Saudi Arabia
King Abdullah International Medical Research Centre (KAIMRC), National Guards
Health Affairs, Jeddah, Saudi Arabia
Editors and Contributors xxi
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Mutations and Polymorphisms: What Is
The Difference?
1
Aga Syed Sameer, Mujeeb Zafar Banday, and Saniya Nissar
Abstract
The human genome exhibits a dynamic but limited variation between different
individuals and across different geographical and/or racial/ethnical populations
which accounts for only 0.1–0.4% of the total genomic DNA or genome. These
genetic variations are generally described in terms of mutation and genetic
polymorphism. Mutation is defined as the irreversible sequence variation in the
DNA which essentiality encompasses all types of variations occurring in the
human genome spontaneously or non-spontaneously. Genetic polymorphism
which is the most common and dynamic form of genetic variation present
throughout the human genome is defined as the presence of two or more alterna-
tive forms of an allele in the genome of any individual, which results in distinct
phenotypes in the same population. Genetic polymorphism represents most of the
variations present in the human genome and includes four different annotated
types, viz. single nucleotide polymorphisms (SNPs), copy number variants
(CNVs), insertions or deletions (indels), and structural variants. Of these, single
nucleotide polymorphisms (SNPs), which involve the substitution of a single
nucleotide by another nucleotide at a specific location within the genome, account
A. S. Sameer (*)
Basic Medical Sciences, College of Medicine, King Saud bin Abdulaziz University for Health
Sciences (KSAU-HS), Jeddah, Saudi Arabia
King Abdullah International Medical Research Centre (KAIMRC), National Guard Health Affairs
(NGHA), Jeddah, Saudi Arabia
e-mail: agas@ksau-hs.edu.sa
M. Z. Banday · S. Nissar
Department of Biochemistry, Government Medical College, Srinagar, Kashmir, India
#
The Author(s), under exclusive license to Springer Nature Singapore Pte
Ltd. 2021
A. S. Sameer et al. (eds.), Genetic Polymorphism and Cancer Susceptibility,
https://doi.org/10.1007/978-981-33-6699-2_1
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