This book reviews the potential of next-generation sequencing (NGS) in research on and management of colorectal cancer (CRC), a leading cause of death worldwide and one of the most biologically and clinically heterogeneous cancers. It critically discusses findings from recent large-scale studies, clinical trials and meta-analyses and offers an introduction to the management of CRC in the era of precision medicine. In CRC, dozens of driver and passenger mutations are associated with the malignant transformation of epithelial cells. Consequently, the book discusses recent advances in our understanding of the genetics of CRC as a biomarker, the advent of NGS technologies in modern genomics, and the impact of NGS technology on the management of CRC. Furthermore, it highlights the potential of NGS in the context of liquid biopsy and single-cell sequencing in CRC, as well as its role in shedding light on the link between gut microbiota, immune-checkpoint blockade and CRC. The book concludes with a chapter on the limitations and cost-effectiveness of NGS in CRC. Given its scope, the book will appeal to all those interested in learning about the potential of NGS in advancing CRC research and patient care.
This book comprehensively summarizes the biology, etiology, and pathology of ovarian cancer and explores the role of deep molecular and cellular profiling in the advancement of precision medicine. The initial chapter discusses our current understanding of the origin, development, progression and tumorigenesis of ovarian cancer. In turn, the book highlights the development of resistance, disease occurrence, and poor prognosis that are the hallmarks of ovarian cancer. The book then reviews the role of deep molecular and cellular profiling to overcome challenges that are associated with the treatment of ovarian cancer. It explores the use of genome-wide association analysis to identify genetic variants for the evaluation of ovarian carcinoma risk and prognostic prediction. Lastly, it highlights various diagnostic and prognostic ovarian cancer biomarkers for the development of molecular-targeted therapy.
This report considers the biological and behavioral mechanisms that may underlie the pathogenicity of tobacco smoke. Many Surgeon General's reports have considered research findings on mechanisms in assessing the biological plausibility of associations observed in epidemiologic studies. Mechanisms of disease are important because they may provide plausibility, which is one of the guideline criteria for assessing evidence on causation. This report specifically reviews the evidence on the potential mechanisms by which smoking causes diseases and considers whether a mechanism is likely to be operative in the production of human disease by tobacco smoke. This evidence is relevant to understanding how smoking causes disease, to identifying those who may be particularly susceptible, and to assessing the potential risks of tobacco products.
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future.
This book provides information on a wide variety of issues ranging from genetics to clinical description of the syndromes, genetic testing and counseling, and clinical management including surveillance, surgical and prophylactic interventions, and chemoprevention. Moreover, current hot issues, such as the identification of novel causal genes and the challenges we face, and the relevance of cancer risk modifiers, both genetic and environmental, are also discussed. This reference book is great for geneticists, oncologists, genetic counselors, researchers, clinicians, surgeons and nurses dedicated to, or interested in, hereditary cancer. The best and most recognized experts in the field have contributed to this project, guaranteeing updated information, accuracy and the discussion of topical issues.
This book trains the next generation of scientists representing different disciplines to leverage the data generated during routine patient care. It formulates a more complete lexicon of evidence-based recommendations and support shared, ethical decision making by doctors with their patients. Diagnostic and therapeutic technologies continue to evolve rapidly, and both individual practitioners and clinical teams face increasingly complex ethical decisions. Unfortunately, the current state of medical knowledge does not provide the guidance to make the majority of clinical decisions on the basis of evidence. The present research infrastructure is inefficient and frequently produces unreliable results that cannot be replicated. Even randomized controlled trials (RCTs), the traditional gold standards of the research reliability hierarchy, are not without limitations. They can be costly, labor intensive, and slow, and can return results that are seldom generalizable to every patient population. Furthermore, many pertinent but unresolved clinical and medical systems issues do not seem to have attracted the interest of the research enterprise, which has come to focus instead on cellular and molecular investigations and single-agent (e.g., a drug or device) effects. For clinicians, the end result is a bit of a “data desert” when it comes to making decisions. The new research infrastructure proposed in this book will help the medical profession to make ethically sound and well informed decisions for their patients.
This is the second edition of a widely used textbook that consolidates the basic concepts of the cancer gene theory and provides a framework for understanding the genetic basis of cancer. Particular attention is devoted to the origins of the mutations that cause cancer, and the application of evolutionary theory to explain how the cell clones that harbor cancer genes tend to expand. Focused on the altered genes and pathways that cause the growth of the most common tumors, Principles of Cancer Genetics is aimed at advanced undergraduates who have completed introductory coursework in genetics, biology and biochemistry, medical students and medical house staff. For students with a general interest in cancer, this book provides a highly accessible and readable overview. For more advanced students contemplating future study in the field of oncology and cancer research, this concise book will be useful as a primer.
A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics.
This book is designed to present a comprehensive understanding for the rationale of neoadjuvant treatment sequencing for localized pancreatic cancer and to focus on accurate clinical staging and stage-specific treatment sequencing. Sections address important aspects of clinical management of localized pancreatic cancer from diagnosis to surgery. These areas include initial radiographic staging, management of obstructive jaundice, role of chemotherapy and chemoradiation in neoadjuvant therapy, assessment of treatment response, and operative considerations for complex vascular resections. A brief review of suggested readings addressing the particular topic follows in each section, as well as a summary of clinical “pearls”. Management of Localized Pancreatic Cancer: Current Treatment and Challenges provides a comprehensive resource which clearly defines the principles of neoadjuvant therapy as well as a clinical framework for successful therapy. It serves as a valuable guide to physicians of multiple disciplines who are interested in utilizing neoadjuvant therapy for localized pancreatic cancer.
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
