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.
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
Provides the clinician with a valuable tool for all aspects of patient care in inherited cancer syndromes, which may amount to up to 10% of all cancers. It presents the fundamental principles of assessing the genetic risk of cancer, the role of genetic counseling, ethical issues in genetic testing for cancer susceptibility, medical-legal issues, and clinical management principles.
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.
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.
Advances in genetics are transforming estimates of an individual’s risk of developing cancer and approaches to prevention and management of cancer in those who may have increased susceptibility. Identifying and caring for patients with hereditary cancer syndromes and their family members present a complex clinical, scientific and social challenge. This textbook, by leading experts at Massachusetts General Hospital Cancer Center, highlights the current understanding of the genetics of hereditary cancers of the breast, ovary, colorectum, stomach, pancreas, kidney, skin, and endocrine organs. Practical guidelines for the use of genetic testing, cancer screening and surveillance, prophylactic surgery, and promising targeted therapeutic agents are discussed. In addition, ongoing research involving genome-wide screens to identify novel modest risk-associated genetic loci are explored, along with new approaches to the application of genetic markers in guiding therapeutic options.
The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.
There are a number of hereditary cancers whose formation can be ascribed to a single gene, which unlike most types of cancers can be used for cancer risk reduction and early detection. Diagnosis and Management of Hereditary Cancer summarizes these and presents for readers the field of brain cancer genetics in a series of 50 tables. These tables each organize known research from different initial observations, to help best diagnose. Clinicians can use symptoms to extrapolate to specific conditions and associated genes, or begin with genes to connect with common symptoms and disorders. Together these diagnostic methods when met in daily clinical practice will allow clinicians to identify the possibility of a hereditary condition. Information organized in this way is not presently available in a single reference until now. This volume will elevate the care of hereditary cancer patients with practice-enhancing information and enhance development of the field by stimulating better diagnosis, management, and treatment. Features a unique table-based presentation of 50 aspects of hereditary brain cancer Analyzes genetics, genetic testing, and clinical features of multiple cancers Reviews clinical features for multiple hereditary cancer syndromes Presents a landscape picture book-style layout for better view of tabular information Provides a table-based presentation to better access information
FIRST PRIZE Winner in the Oncology category of the 2010 BMA Medical Book Competition. Intensive research over the last fifteen years has yielded a vast expansion in our understanding of the role of inheritance and genetics in a variety of cancers. Several inherited conditions have been identified which result in a high risk of various cancers; some of these were previously recognized, but the genetic basis underlying them has now been elucidated. This knowledge is now entering the sphere of routine clinical care. Surgeons, gastroenterologists, gynaecologists, oncologists, endocrinologists and many others need an awareness of these disorders, an understanding of genetic testing and when it is indicated, and how to manage patients with inherited cancer predisposition and their families. This book covers the basic concepts of cancer genetics. The common inherited cancer syndromes are each dealt with in greater depth, with the current management outlined. This book is aimed at all clinicians who may encounter these conditions in their practice. It aims to facilitate identification of high-risk individuals and families, to inform interaction with geneticists and other subspecialists, to provide a basis for patient management and to stimulate interest in these fascinating conditions.
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
