Endocrine Tumor Syndromes And Their Genetics

Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer. This book was released on 2020-10-17 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Download or read book Endocrine Tumor Syndromes and Their Genetics written by Constantine A. Stratakis and published by Karger Medical and Scientific Publishers. This book was released on 2013 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: From classic MEN syndromes to various germline and somatic mutations in sporadic tumors In these times, a book should aspire to present the most significant advances in the field, reflect the themes of the moment, and provide a useful compendium for future reference. This book accomplishes all three objectives by discussing the changing world of modern genetics in endocrine tumors and its impact on clinical practice. Clinicians have to incorporate modern genetics and systems biology in their daily practice. Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology. Taking these aspects into account, the chapters in this book cover both the classic multiple endocrine neoplasia (MEN) syndromes, as well as newly described ones, such as Carney triad and Carney- Stratakis syndrome. Furthermore, the genetics of paragangliomas as well as thyroid, parathyroid, and pituitary tumors are examined. Outlining the latest research and its obvious implications for our understanding the genetics of endocrine tumor formation and molecular biology of cancer and their potential therapeutic implications, this book is not only useful for researchers but even more so for practicing clinicians, in particular internists, endocrinologists, oncologists, pediatricians, surgeons, pathologists, geneticists, and genetic counselors.

Download or read book Pheochromocytoma written by Karel Pacak and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pheochromocytomas are rare but treacherous catecholamine-producing tumors, which if missed or not properly treated, will almost invariably prove fatal. Prompt diagnosis is, therefore, essential for effective treatment, usually by surgical resection. The manifestations are diverse and the tumor can mimic a variety of conditions, often resulting in either erroneous diagnoses or a delayed diagnosis. Reflecting the recent leaps in understanding this condition, Pheochromocytoma: Diagnosis, Localization, and Treatment provides a comprehensive update on the improvements in the diagnosis, localization, management and treatment of pheochromocytomas – providing you with the latest cutting edge science alongside best clinical practice. Written by the leading names in the field, the text details the significant developments in understanding the genetics and biology of the tumors, coupled with technological advances in the fields of analytical chemistry, genomics, molecular biology and nuclear medicine. The most comprehensive book on pheochromocytoma Provides cutting edge science and clinical guidance Written by the leading names in the field Authors present their recently developed novel biochemical test for the diagnosis of Pheochromocytoma

Download or read book Pathology and Genetics of Tumours of Endocrine Organs written by Ronald A. DeLellis and published by IARC. This book was released on 2004 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: This vol. was produced in collaboration with the International Academy of Pathology (IAP). - This publication reflects the views of a working group that convened for an editorial and consensus conference in Lyon, France, April 23-26, 2003

Download or read book Genetics of Colorectal Cancer written by John D. Potter and published by Springer. This book was released on 2008-12-08 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic susceptibility refers to how variations in a person’s genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.

Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.