Rare Hereditary Cancers

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.

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

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 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

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