Cancer Cytogenetics

The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible

Cytogenetic studies of malignancy have become an essential tool in the clinical management of cancer patients. Cancer Cytogenetics: Methods and Protocols presents eminently practical key cytogenetic and FISH techniques for every stage of diagnostic service. Experts in the field describe detailed cytogenetic analysis methods, fluorescence in situ hybridization and array methods currently being applied to investigate and diagnose different varieties of cancer. Written in the highly successful Methods in Molecular BiologyTM series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, and step-by-step, readily reproducible laboratory protocols. The authors of the various chapters have also provided extensive notes to guide individuals who are new to these methods through the pitfalls that bedevil all such testing. Authoritative and accessible, Cancer Cytogenetics: Methods and Protocols serves as an ideal guide to scientists of all backgrounds, allowing them to either establish new techniques in their laboratories or find the different variations of standard methods helpful in improving their results.

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.

Following a section on tissue culture, chromosome staining and basic information about karyotyping, this text presents nomenclature and quality standards, as well as protocols of relevance to comprehensive cytogenetic diagnostics.

A collection of key cytogenetic and FISH techniques used by modern clinical laboratories in the genetic analysis of human malignancies. The book's practical advice and methods are suitable for use at every level of expertise, including fully established laboratories, but with a sympathetic bias towards anyone considering setting up a new cytogenetics service. Here the reader will find not only elementary tutorials on the fundamentals of human karyotypes and chromosome analysis, but also detailed discussions on how laboratories may optimally upgrade their repertoire of capabilities to include such newer complementary techniques as CGH, FISH, and M-FISH.

Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases

Cancer Cytogenetics, 3rd Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area and incorporates a vast amount of new data from the latest basic and clinical investigations. Edited by two leading experts, and now involving a new panel of international experts, the book offers an authoritative description of neoplastic processes at the chromosomal level of genomic organization. Researchers in cytogenetics, medical and molecular genetics, cellular and molecular biology, cancer research, clinical oncology, and hematology will find this reference both thorough and authoritative.

Explore the past, present, and future of cancer cytogenetics In Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics, globally renowned researchers Drs. Sverre Heim and Felix Mitelman deliver a state-of-the-art review of how cancer cytogenetic analyses have contributed to an improved understanding of tumorigenesis as well as to the diagnosis and treatment of cancer patients. The book also discusses how cytogenetics – the study of chromosomes - meets, interacts with, and cross-fertilizes other investigative technologies, including molecular somatic cell genetics. The book provides an impetus to think more deeply about the role chromosomes, and their abnormalities, play in health and disease, especially in neoplastic disorders. From which origins did cytogenetics develop? How did the finding of acquired chromosomal abnormalities in cells of leukemias and solid tumors influence our understanding of cancer as a biological process? How was information of this nature put to good use in the clinical management of cancer patients? Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics offers readers: A thorough introduction to ancient theories of disease, the advent of cellular pathology, and how a scientific interest in chromosomes developed Comprehensive exploration of the conceptual importance of Theodor Boveri and his somatic mutation theory of cancer A detailed chronological resume of cancer cytogenetic discoveries during the 20th century In-depth discussions of the role of chromosome abnormalities, oncogenes, and tumor suppressor genes in leukemias, lymphomas, and solid tumors, together with a survey of what chromosome analyses have revealed about the clonal evolution of neoplastic cell populations A discussion of the importance of pathogenetic classifications of neoplastic diseases, the role chromosome abnormalities play in this context, and which technological breakthroughs can be expected in chromosome-oriented cancer research Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics was written for everyone with a scientific or clinical interest in cancer, especially how acquired chromosome abnormalities lead to neoplastic transformation. The book teaches how cytogenetic analyses contribute to a better understanding of tumorigenesis, but also how the finding of specific chromosome aberrations can be crucial for the diagnosis, prognosis, and management of cancer patients.

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource