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Rare Hereditary Cancers by Gabriella Pichert,Chris Jacobs Pdf
This book approaches the differential diagnosis and management of rare, hereditary cancer syndromes from a practical angle, addressing the issues pertinent to each tumour type as encountered by health professionals in their day-to-day practice. This book enables readers to correctly identify patients with rare cancer syndromes who would benefit from genetic counselling and testing, and provides the necessary knowledge for appropriate patient management and advising at-risk family members. It begins by describing recent advances in genetic testing for cancer-predisposing genes. Leading experts from Europe and Australia then offer detailed, up-to-date guidance on the diagnosis and management of a wide range of hereditary cancers. The concluding chapter examines the wider issues that are raised by genetic testing for rare cancer syndromes for patients, families and health professionals. This book is an invaluable source of information for all specialists involved in the care of such patients and their families.
The Genetics of Cancer by B.A. Ponder,M.J. Waring Pdf
It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Familial Adenomatous Polyposis, or FAP, accounts for roughly 1 percent of hereditary colorectal cancer and carries an extremely high lifetime risk of colon cancer and elevated risks for other exceedingly rare cancers. It is an autosomal dominant condition caused by germline mutations in the adenomatous polyposis coli (APC) gene. By the age of fifty, nearly 99 percent of untreated FAP patients will have developed cancer. This is the dark shadow that has lingered over one family since at least 1911, when a matriarch was first seen at the Mayo Clinic in Rochester, Minnesota for symptoms that would become commonplace in her descendants. Three of her five children died in their thirties with what they'd come to call "summer's complaint." Her granddaughter, genetically programmed by a defect on her 5th chromosome also developed cancer, which would ultimately take her life. This is that family's sometimes tragic story. As told by a daughter, aunt, and sister who has been surrounded by its relentless destruction her entire life, Summer's Complaint is at once a testament to the courage of those one family has lost and a journey toward understanding hereditary predispositions to disease and how best to combat them. "This book is a wonderful blend of reflections and medicine. Well-written and deeply informed, Laura's story will especially be of interest to curious readers in the healthcare space." -Maren R "Amazingly well-written and very interesting read! Bravo!" -Katie H "Extremely well-written and very understandable. One of the best books I've read this year." -Jane T
Genetics for Health Professionals in Cancer Care by Chris Jacobs,Lorraine Robinson,Patricia Webb Pdf
The role of genetics is becoming increasingly important in all aspects of healthcare and particularly in the field of cancer care. Genetics for Health Professionals in Cancer Care: From Principles to Practice equips health professionals with the knowledge and skills required for all aspects of managing cancer family history. This includes taking an accurate cancer family history and drawing a family tree; understanding cancer biology, basic cancer genetics and the genes involved in hereditary breast, ovarian, prostate, colorectal, gastric and related gynaecological cancers and rare cancer predisposing syndromes; assessing cancer risk and communicating risk information; early detection and risk reducing measures available for those at increased risk and managing individuals with hereditary cancer. Drawing on experiences of health professionals, Genetics for Health Professionals in Cancer Care discusses the challenges raised and provides practical advice and insight into what happens when a patient is referred for genetic counselling and genetic testing, including the psychological, social and ethical issues faced by individuals and families with and at risk of hereditary cancer. The book also provides practical guidance on setting up a cancer family history clinic in primary and secondary care. Genetics for Health Professionals in Cancer Care is essential reading for healthcare professionals working with cancer patients and their families, and is an ideal reference text for non-specialists working in cancer genetics.
It is 1946, and a young man stares out his third-story apartment window. He has returned from the war with metastatic cancer and assumes he will die, leaving his wife and infant daughter behind. Instead, he lives another twenty-four years, raising a family of four children, before he succumbs to a second colon cancer. His son, the author, recognizes that there is a hereditary cancer syndrome in the family and resolves to solve the problem as a medical researcher. Eventually, hereditary colorectal cancer is recognized as a medical entity, and multiple genes responsible for this hereditary condition are isolated. However, the mutation responsible in the author’s family escaped detection. In 2001, his laboratory identifies the mutation responsible for the problem and develops a specific test for the family. This permits the mutation carriers to obtain life-saving care, altering the natural history of the disease for his family and others.
Rare Cancer Agenda 2030 by Rare Cancers Europe Pdf
RARE CANCER AGENDA 2030 Ten Recommendations from the EU Joint Action on Rare Cancers 1. Rare cancers are the rare diseases of oncology 2. Rare cancers should be monitored 3. Health systems should exploit networking 4. Medical education should exploit and serve healthcare networking 5. Research should be fostered by networking and should take into account an expected higher degree of uncertainty 6. Patient-physician shared clinical decision-making should be especially valued 7. Appropriate state-of-the-art instruments should be developed in rare cancer 8. Regulation on rare cancers should tolerate a higher degree of uncertainty 9. Policy strategies on rare cancers and sustainability of interventions should be based on networking 10. Rare cancer patients should be engaged
Pediatric Cancer Genetics by Nathaniel H. Robin,Meagan Farmer Pdf
Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. Consolidates today’s available information and guidance in this timely area into one convenient resource.
Hereditary Colorectal Cancer by Laura Valle,Stephen B. Gruber,Gabriel Capellá Pdf
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.
Diagnostic Pathology: Familial Cancer Syndromes by Vania Nosé Pdf
This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Physicians should have the knowledge derived from morphological findings to identify the likelihood of a cancer patient having an additional underlying familial syndrome— and to decide if that patient should undergo molecular genetic evaluation. This volume is specifically designed to help pathologists, oncologists, and other physicians who diagnose and treat cancer to recognize syndromes and syndrome- associated neoplasms and advise patients and their families on the possibility of a familial syndrome and their risk of developing other tumors. Diagnostic Pathology: Familial Cancer Syndromes, second edition, is an easy-to-use, one-stop reference for information on hereditary cancer syndromes, including differential diagnosis and management, that offers a templated, highly formatted design; concise, bulleted text; and superior color images throughout. Contains all the information necessary to determine whether a neoplasm typically encountered in daily practice is sporadic or related to a familial cancer syndrome Features a revised structure to keep you up to date: Part I includes more than 80 detailed chapters describing diagnoses associated with familial cancer syndromes; Part II contains more than 70 chapters with detailed descriptions of major syndromes (cross-referenced with diagnoses); and Part III features a molecular factors index that includes a complete description of each known gene associated with a familial cancer syndrome Contains updated chapters with newly classified GI, neurology, multiple organ, eye, endocrine, GYN, and kidney tumors, as well as more than 20 entirely new chapters covering recently recognized syndromes Incorporates up-to-date molecular findings and their significance for familial cancer syndromes; new techniques and technologies being used to discover gene mutations and other alterations; and details on personalized medicine targeted to specific genes Features more than 2,200 images throughout, including clinical and radiological images, algorithms, graphics, gross pathology, histology, and a wide range of special and immunohistochemical stains—all carefully annotated to highlight the most diagnostically significant factors Features time-saving bulleted text, key facts in each chapter, an extensive index, and numerous tables for quick reference and thorough understanding
A Guide to Genetic Counseling by Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar Pdf
The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.
Author : William D. Foulkes,Shirley V. Hodgson Publisher : Cambridge University Press Page : 480 pages File Size : 48,9 Mb Release : 1998-06-28 Category : Medical ISBN : 0521563402
Inherited Susceptibility to Cancer by William D. Foulkes,Shirley V. Hodgson Pdf
Many cancers, both common and rare, are known to have a hereditary predisposition and advances in genetics have clarified the risks and in some cases the mechanisms of cancer developing in an individual. First published in 1998, this important contribution to the literature of cancer genetics covers all the key issues, reviewing both the technology behind genetic risk assessment and the ethical dilemmas it poses. It is divided into two parts. The first deals with ethical, legal and social issues. The second systematically outlines current knowledge of the inheritance patterns of many different cancer types, both from a site-by-site perspective and for special groups. This authoritative volume will be of interest to oncologists, physicians and surgeons in other specialities and to health professionals in the areas of primary care, counselling and cancer risk assessment.
Diagnosis and Management of Hereditary Cancer by John W. Henson,Robert G Resta Pdf
Many hereditary cancer syndromes are linked to alterations in single genes. Detection and clinical interpretation of these alterations can guide cancer risk reduction for patients and their families through screening, prophylactic measures, and other strategies. Diagnosis and Management of Hereditary Cancer summarizes hereditary syndromes and their associated cancers and genes. The information is presented in 50 practice-enhancing tables that relate clinical, genetic, diagnostic, and management aspects in a manner that has previously not been available in a single reference. Intended to guide the specialist as well the novice, this volume will elevate the care of hereditary cancer patients and their families. Unique table-based presentation of 50 key aspects of hereditary cancer Clinical features, genetics, genetic testing, diagnosis, counseling, and management of multiple hereditary cancer syndromes Table-based format to inter-relate clinical and scientific information Landscape layout for easier viewing of tabular information
Hereditary Cancer by Hansjakob Müller,R. J. Scott,Walter Weber Pdf
Molecular genetics has revolutionized our understanding of the susceptibility to and pathogenesis of cancer and is heralding the era of 'molecular oncology'. This progress is well illustrated by the gain in knowledge accumulated since the release of 'Familial Cancer' in 1985 - known among experts as the 'yellow book'. Cancer genes can now be identified, mapped and sequenced, and this technology has resulted in presymptomatic testing of persons at risk and the development of preventive therapeutic measures. This book provides an update of the latest advances by international experts in the field of hereditary cancer, with special emphasis on the needs of medical practice. The first part is devoted to a discussion of the mechanisms by which predispositions lead to breast and ovarian cancer, intestinal cancer, neoplasia of endocrine glands, and tumors in rare cancer syndromes. Attention is also given to epidemiological aspects of familial cancer occurrence. The second part covers genetic counseling and testing of members of high-risk families, as well as the prevention and treatment of hereditary cancer. Clearly written and well-organized, this book provides essential information not only for molecular geneticists and epidemiologists, but also for genetic counselors and oncologists.
Genetics of Colorectal Cancer by John D. Potter,Noralane M. Lindor Pdf
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.
