Cancer is the most common cause of disease-related death in children beyond the newborn period.
Author: David Malkin
Publisher: Elsevier Inc. Chapters
Cancer is the most common cause of disease-related death in children beyond the newborn period. Most cancers are thought to arise sporadically; however, classical studies of well-defined familial cancer associations, known as cancer predisposition syndromes (CPS), together with emerging work arising from new high-resolution genomic platforms have confirmed that at least 25% of childhood cancers result from hereditary factors. The spectrum of cancers found in the diverse array of known hereditary cancer syndromes is vast. Similarly, the number of genes linked to these syndromes continues to expand. This chapter explores the genotype:phenotype correlations in several defined cancer predisposition syndromes that primarily affect children. In particular, a selection of syndromes that are caused by germline mutations in classical tumor suppressor genes (RB1, TP53, WT1) and oncogenes (RET), syndromes associated with congenital developmental anomalies (Beckwith–Wiedemann syndrome, Gorlin syndrome) and an emerging syndrome associated with microRNA processing (DICER1) provide examples of the heterogeneity that these syndromes exhibit. The chapter concludes with a discussion of the clinical impact of genetic testing and clinical surveillance for early cancer detection.
Written by a team of international experts, this book provides an authoritative overview and practical guide to the molecular biology and genetic basis of haematologic cancers including leukemia.
Author: Sabrina Tosi
Publisher: John Wiley & Sons
Written by a team of international experts, this book provides an authoritative overview and practical guide to the molecular biology and genetic basis of haematologic cancers including leukemia. Focusing on the importance of cytogenetics and related assays, both as diagnostic tools and as a basis for translational research, this is an invaluable guide for basic and clinical researchers with an interest in medical genetics and haemato-oncology. The Genetic Basis of Haematological Cancers reviews the etiology and significance of genetic and epigenetic defects that occur in malignancies of the haematopoietic system. Some of these chromosomal and molecular aberrations are well established and already embedded in clinical management, while many others have only recently come to light as a result of advances in genomic technology and functional investigation. The book includes seven chapters written by clinical and academic leaders in the field, organised according to haematological malignancy sub-type. Each chapter includes a background on disease pathology and the genetic abnormalities most commonly associated with the condition. Authors present in-depth discussions outlining the biological significance of these lesions in pathogenesis and progression, and their use in diagnosis and monitoring response to therapy. The current or potential role of specific abnormalities as novel therapeutic targets is also discussed. There is also a full colour section containing original FISH, microarrays and immunostaining images.
Lymphomas account for approximately 10% of childhood malignancies.
Author: Nathanael G. Bailey
Publisher: Elsevier Inc. Chapters
Lymphomas account for approximately 10% of childhood malignancies. Pediatric lymphomas are typically aggressive: lymphoblastic lymphoma, Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL), and anaplastic large cell lymphoma (ALCL) are among the most common pediatric lymphoma subtypes. The genetic basis of these neoplasms is beginning to be understood. Lymphoblastic lymphomas arise through a variety of genetic pathways, dependent upon B- or T-progenitor origin. Aggressive B-cell lymphomas (BL and DLBCL) commonly arise secondary to errors that occur during physiologic B-cell development. BL is characterized by MYC translocation with an immunoglobulin locus enhancer. This lesion may also be present in DLBCL, particularly in children, but DLBCLs often have mutations of a variety of other genes, such as BCL6. DLBCL may be separated into germinal center B-cell-like (GCB) and activated B-cell-like groups. Pediatric DLBCL are more commonly in the GCB category than are adult DLBCL. Adult DLBCL has a tendency toward increased genomic complexity compared with pediatric DLBCL. ALCL is a T-cell lymphoma that is typically characterized by ALK fusions, most commonly with NPM. Genomic profiling has identified areas of recurrent genetic gains and losses in ALCL. Understanding the underlying genetic basis of lymphoma provides hope for the development of more targeted therapies for this group of diseases. However, further investigation of the lymphoma genome is necessary, particularly in pediatric 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.
Author: Fred Bunz
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.
Miller RW: Deaths from childhood cancer in sibs, N Engl J Med 1968; 279(3):122– 126. Milligan DW, Stark AN, Bynoe AG: Hairy cell leukaemia in two brothers.
Author: Richard A. King
Publisher: Oxford University Press
Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult diseases, and we now have a better understanding of the molecular processes involved in genetic susceptibility and diseases mechanisms. The second edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthritis, skin cancer, other common skin diseases, prostate cancer and migraine headaches that are seen by all physicians. Others address the genetic and molecular basis of spondylarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. Chapters on the evolution of human genetic disease and on animal models add important background on the omplexities of these diseases. Unique clinical applications of genetics to common diseases are covered in the additional new chapters on genetic counseling, pharmacogenetics, and the genetic consequences of modern therapeutics.
Extensive illustrations make this an interactive text. Management of Adrenal Masses in Children and Adults will serve as a very useful resource for all providers dealing with, and interested in this common but challenging tumor.
Author: Electron Kebebew
This book is designed to present a comprehensive and state-of the-art approach to the management of adrenal neoplasms that provides a resource to the broad group of providers that will encounter such a patient. Sections address issues that are faced by providers who encounter a patient with an adrenal neoplasm. These areas include an overview of the genetic basis and familial cancer syndrome-associated with adrenal neoplasms, pathobiology, advanced and tumor specific imaging approaches and technologies, biochemical analysis, standard medical and surgical therapies, and emerging technology and treatment approaches to benign and malignant adrenal neoplasms. Written by experts in the field, each of these sections address level of clinical evidence and provide recommendations and treatment algorithms. Extensive illustrations make this an interactive text. Management of Adrenal Masses in Children and Adults will serve as a very useful resource for all providers dealing with, and interested in this common but challenging tumor. It will provide a concise yet comprehensive summary of the current status of the field that will help guide patient management and stimulate investigative efforts.
Children born to an individual with NF2 should be screened to determine the ... cell tumors of 152 CLINICAL COMPANION TO THE MOLECULAR AND GENETIC BASIS OF ...
Author: Roger N. Rosenberg
Category: Molecular neurobiology
"To create this companion volume, the editors have extracted from the original book the practical and clinical information that is most useful for neurologists in the diagnosis and treatment of genetic neurologic disease."--Preface.
Author: Alexandre Rezende VieiraPublish On: 2020-01-10
This book explains the genetic basis of a wide range of dental disorders, including dental caries, periodontitis, congenital anomalies, malocclusions, orofacial pain, dental implant failure, and cancer.
Author: Alexandre Rezende Vieira
Publisher: Springer Nature
This book explains the genetic basis of a wide range of dental disorders, including dental caries, periodontitis, congenital anomalies, malocclusions, orofacial pain, dental implant failure, and cancer. Such conditions are typically multifactorial or complex, with involvement of more than one gene as well as environmental influences. A sound grasp of this framework is ever more important, given the emergence of consumer genomics, including direct-to-consumer genetic testing. Dental professionals now need to understand why one person is susceptible to a particular oral health condition while a first-degree relative either does not develop the condition or does so in a less severe form. Knowledge of how genes operate in the susceptible host is essential if patients are to be offered accurate advice about their risks. The information provided in this book will assist in the delivery of effective personalized dental care through optimization of preventive strategies. It will enable the practitioner to explain the extent to which a patient’s condition is pure "bad luck", whether that bad luck can be changed by behavioral choices, and how many of our behaviors are influenced by genes.
Providing a broad and comprehensive examination of recent advances in this field, this volume focuses on basic and clinically-related laboratory research, with a concentration on molecular genetics, cell biology, differentiation and ...
Author: Audrey E. Evans
The search for effective treatment of neuroblastoma has stimulated an enormous increase in research, conducted in order to achieve a better understanding of the cellular and genetic basis of this unique class of tumor in children and adults. Providing a broad and comprehensive examination of recent advances in this field, this volume focuses on basic and clinically-related laboratory research, with a concentration on molecular genetics, cell biology, differentiation and innovative therapies.
Childhood cancer research network: a North American pediatric cancer registry. Cancer Epidemiology Biomarkers & Prevention. July 2006;15(7):1241–1242.
Author: Maria I. New
Publisher: Springer Science & Business Media
Proceedings of the 2nd World Conference – Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology. The meeting took place at The Eden Roc Hotel in Miami Beach, Florida, 1/15/10 – 1/17-10. Endocrinology and more specifically, the area of sexual differentiation disorders is an evolving field of medicine. The diagnosis and treatment of Disorders of Sex Development (DSD) is multi-faceted.
Author: National Research CouncilPublish On: 2011-01-16
The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory ...
Author: National Research Council
Publisher: National Academies Press
Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives. To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.
Validation of postoperative residual contrast-enhancing tumor volume as an ... Subsequent neoplasms of the CNS among survivors of childhood cancer: a ...
Author: Roger N. Rosenberg
Publisher: Academic Press
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume Two provides a comprehensive introduction and reference to the foundations and practical aspects relevant to the majority of neurologic and psychiatric disease. This updated volume focuses on degenerative disorders, movement disorders, neuro-oncology, neurocutaneous disorders, epilepsy, white matter diseases, neuropathies and neuronopathies, muscle and neuromuscular junction disorders, stroke, psychiatric disease, and a neurologic gene map. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands on the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, related professionals, and for the neuroscience and neurology research community at large. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Provides comprehensive coverage on the neurogenetic foundation of neurological and psychiatric disease Presents detailed coverage of genomics, animal models and diagnostic methods, with new coverage on evaluating patients with biochemical abnormalities or gene mutations Includes new chapters on the pharmacogenomics of epilepsy and the most recent updates in molecular genetics, focusing on neurodegenerative and psychiatric diseases
Beginning with the scientific basis of tumors, this book provides up-to-date information on epidemiology, cytogenetics, and molecular biology, before examining current treatments for the full range of pediatric tumors.
Author: Robert Carachi
Beginning with the scientific basis of tumors, this book provides up-to-date information on epidemiology, cytogenetics, and molecular biology, before examining current treatments for the full range of pediatric tumors. Integration of surgery, neoadjuvant and adjuvant chemotherapy, and radiation therapy is a dominant theme. In addition, chapters on supportive care, palliative care, and the role of parents’ associations reflect the book's holistic approach. All chapters are written by world-renowned international authorities on pediatric cancer from major children's cancer groups. Excellent full-color pictures and line drawings illustrate all aspects of managing childhood tumors, including details of operative techniques neglected in many other texts. This comprehensive book, expanded and updated to encompass the very latest developments and strategies, provides a contemporary approach for pediatric, general, and urological surgeons dealing with childhood tumors.
In this book, we provide an overview of our current understanding of this cancer blueprint, which has been aided both by the study of familial cancer syndromes, in vitro studies of cancer cells, and animal models.
Author: Michael Dean
Publisher: Biota Publishing
Scientists are deciphering the biology of the tumor cell at a level of detail that would have been hard to imagine just a decade or so ago. The development of high-throughput DNA sequencing and genomics technologies have allowed an understanding of the development, growth, survival, and spread of cancer cells in the body. From this information, we now have a basic blueprint or roadmap of how a single damaged cell can develop into a pre-malignant lesion, a primary tumor, and finally, a lethal tumor that may spread throughout the body and resist both medical therapy and host immune responses. In this book, we provide an overview of our current understanding of this cancer blueprint, which has been aided both by the study of familial cancer syndromes, in vitro studies of cancer cells, and animal models. Three classes of genes have emerged from these studies: tumor suppressor genes needed for normal growth control and DNA repair; oncogenes that regulate cell growth and survival, and epigenetic modifiers, enzymes that regulate the modification of DNA and the proteins that form chromatin. Each of these three classes of genes is mutated or altered at least once in virtually all malignant cancer cells. Current technologies permit the DNA sequencing of cancer exomes (coding gene sequencing), whole genomes, transcriptome (all expressed genes), and DNA methylation profiling. These studies show that all tumors have unique constellations of mutated, rearranged, amplified, and deleted genes. Single-cell sequencing further shows that there is extensive variation in individual cells in the tumor; that cancers evolve, and have many of the properties of a multi-cellular entity. Lastly, cancer cells, through mutations in epigenetic modifiers, can reprogram the genome and unlock entire developmental and gene expression pathways to adapt and survive in changing conditions. This reprogramming allows the tumor to elude the host body's defenses, radiotherapy, chemotherapy, and targeted therapy that we use in cancer treatment. Understanding this cancer blueprint paves the way for the development of future therapies to treat and eliminate cancer.
In this volume, they present their ideas on the role of oncogenes and their protein products in human tumors, with emphasis on diagnostic applications.
Author: Mark Furth
Publisher: Cold Spring Harbor Laboratory Press
Scientists and physicians share overlapping interests in fundamental cancer biology and in the potential clinical ramifications of specific mutations in cancer cells. In this volume, they present their ideas on the role of oncogenes and their protein products in human tumors, with emphasis on diagnostic applications. They also review the medical implications of discoveries concerning the genetic basis of neoplastic disease. Topics include nuclear oncogene proteins; growth factors and their receptors; activation of ras, src, and raf oncogenes; chromosomal rearrangements associated with oncogene activation; gene loss in human cancers; the identification and potential function of anti-oncogenes ; the genetic basis for the resistance of tumor cells to chemotherapeutic drugs; and DNA tumor virus oncogenes in some human cancers. Molecular Diagnosis of Human Cancer also includes technical advances, as well as data on the diagnostic and prognostic implications of particular oncogene alterations in a number of cancers, notably pediatric neuroblastoma, the myelogenous leukemias, and carcinomas of the colon, bladder, pancreas, and breast.
... multiple arousals throughout the night in childhood and prolonged bouts of ... methylation- and cancer-related gene loci ; and for imprinted genes, ...
Author: Paul Shaw
Publisher: Cambridge University Press
Category: Health & Fitness
The first comprehensive book on the subject, The Genetic Basis of Sleep and Sleep Disorders covers detailed reviews of the general principles of genetics and genetic techniques in the study of sleep and sleep disorders. The book contains sections on the genetics of circadian rhythms, of normal sleep and wake states and of sleep homeostasis. There are also sections discussing the role of genetics in the understanding of insomnias, hypersomnias including narcolepsy, parasomnias and sleep-related movement disorders. The final chapter highlights the use of gene therapy in sleep disorders. Written by genetic experts and sleep specialists from around the world, the book is up to date and geared specifically to the needs of both researchers and clinicians with an interest in sleep medicine. This book will be an invaluable resource for sleep specialists, neurologists, geneticists, psychiatrists and psychologists.
Author: WHO Scientific Group on the Control of Hereditary DiseasesPublish On: 1996
An expert assessment of striking recent developments in molecular genetics and their implications for medical practice at present and in the immediate future.
Author: WHO Scientific Group on the Control of Hereditary Diseases
Publisher: WHO Technical Report
An expert assessment of striking recent developments in molecular genetics and their implications for medical practice at present and in the immediate future. Adopting a public health approach the report aims to help medical decision-makers and practitioners understand both the technical basis of progress and its potential to revolutionize the management of numerous diseases. Advances in the prevention and treatment of classical genetic disorders are considered together with newer opportunities opened by knowledge that many common disorders including coronary heart disease and certain cancers have a genetic component. Throughout the report a special effort is made to help planners in developing and developed countries alike reap the full public health benefits of technologies that are becoming increasingly powerful simple and inexpensive to use. Information ranges from a discussion of the state-of-the-art in gene therapy through a tabular summary of treatment results for specific congenital anomalies to advice on ways to integrate simple genetic approaches into everyday medical practice. Relevant ethical social and legal issues are also critically assessed in an effort to provide comprehensive guidance. The report has eight sections. Background information is provided in the first which explains the structure and functions of DNA summarizes knowledge about the genetic basis of both single-gene and multifactorial disorders and traces the spectacular development of DNA technology and diagnostic tests over the past decade. The Human Genome Project - and its potential to transform medical practice on many levels - are also explained in detail. A section on epidemiology discusses factors influencing the frequency of genetic and congenital disorders and describes opportunities for their management and prevention. The impact that these advances will have on the demand for genetic services is also assessed. The large scale of implications for medical practice is underscored in the third section which reviews and interprets growing knowledge about the genetic component of many common disorders including coronary heart disease certain cancers asthma diabetes mental disorders and Alzheimer disease. A comprehensive review of current and future opportunities for prevention including both genetic family studies and population screening is followed by sections covering the basic principles of genetic counseling and opportunities within the context of obstetric care for prenatal diagnosis using ultrasound scanning and DNA technology. The remaining sections offer advice on the organization of genetic services in industrialized and developing countries alike and discuss the ethical social and legal aspects of genetic technology in medicine concluding that the broadest ethical issue in the area of genetic services is their limited availability.