Inherited Cancer Syndromes: Current Clinical Management

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9780387402468: Inherited Cancer Syndromes: Current Clinical Management

Of the 8 million individuals living with cancer in the United States, up to 800,000 patients have a form of inherited cancer. Inherited cancer syndromes account for 5-10% of all cancers, as evidenced by recent advances in the understanding of such syndromes as Familial Polyposis Syndromes (FAP), Hereditary Nonpolyposis Colon Cancer (HPNCC), and the BRCA1 and 2 breast cancer susceptibility genes. Inherited Cancer Syndromes: Current Clinical Management provides the clinician with a valuable tool for all aspects of patient care in inherited syndromes. Comprehensive, timely chapters present the fundamental principles of genetic counseling and testing, ethical issues, medical-legal issues, and clinical management principles. Chapters on inherited breast cancer, colon cancer, urologic malignancies, gynecologic malignancies, and MEN syndromes provide state-of-the-art information on hereditary risk identification, assessment and management, the role of the genetic counselor, providing optimal patient care, and the important research on the horizon - all written by an expert group of surgical and medical oncologists. Inherited Cancer Syndromes: Current Clinical Management is an important and timely book for surgical oncologists, medical oncologists, radiation oncologists, general surgeons, colorectal surgeons, trainees in surgery and oncology, and genetic counselors.

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From the Back Cover:

The advances in our understanding of genetics has exploded since the publication of the first edition of Inherited Cancer Syndromes. We’ve moved from an incomplete understanding of the human genome to the availability of over-the-counter DNA analysis kits. There is simply too much complicated, high-level science for a busy clinician to meaningfully absorb without a filter. Inherited Cancer Syndromes is designed to bridge that gap. With this new edition, the clinical content has been expanded and clarified in order to be more tightly focused on the real-world implications of emerging therapies. The chapter authors are among the leading experts in these topics. Naturally, this book is not meant to be an exhaustive “how to” textbook or procedure-heavy monograph, but a clinically relevant overview of this dynamic and difficult aspect of cancer patient care. “ The chapters on syndromes are divided by type of cancer, and each includes discussions of risk assessment, indications for genetic testing, interpretation of test results, and integration into clinical management of risk estimates and results of genetic testing. The chapter on breast cancer also provides an insightful discussion of surrogate end-point markers. Each syndrome of susceptibility to polyposis and nonpolyposis colon cancer is described, with algorithms as to when genetic testing is indicated. Guidelines for prevention and management follow. ... This book provides the knowledge base needed for most physicians to incorporate the principles of inherited susceptibility to cancer and genetic testing properly into their practices. It is highly recommended, since many physicians and health care workers have not been trained in this area, which has become an established part of clinical medicine.” Book Review, New England Journal of Medicine Volume 351:2137-2138 November 11, 2004 Number 20

From The New England Journal of Medicine:

Advances in the field of genetics during the past 15 years have made possible the identification of a number of genes associated with an inherited predisposition to cancer. Genetic testing for susceptibility to cancer has thereby become a part of clinical practice. Susceptibility to cancers of the breast and colon, malignant melanoma, and other cancers, often in the setting of inherited syndromes, can now often be precisely defined by genetic testing in individual persons and families. The related issues of presymptomatic diagnosis and the prevention of disease have become particularly relevant, as have the proper application, interpretation, and use of genetic-test results. (Figure) Inherited Cancer Syndromes was specifically designed to educate physicians and health care workers about the genetic aspects, in the clinical setting, of inherited syndromes of cancer. The first half of the book addresses general issues such as the assessment of inherited risk, genetic counseling, and the ethical and legal issues raised by genetic testing. The second half reviews cancer-specific inherited risk and the individual cancer syndromes. There are chapters on breast cancer, colonic-polyposis syndromes, hereditary nonpolyposis colorectal cancer, ovarian and other gynecologic cancers, urologic cancers, and multiple endocrine neoplasias. The first chapter is an excellent review of the assessment of inherited risk and includes general approaches as well as detailed descriptions of how to diagnose specific syndromes. The various models for determining the risk of breast cancer are also presented. The chapter would have been strengthened by the addition of information on the frequency at which mutations associated with various syndromes are found and the reasons why relevant mutations are not always found in patients known clinically to have a syndrome. The chapter on genetic counseling reviews the history, principles, process, philosophy, and importance of this discipline in regard to clinical practice and genetic testing. The central counseling tenet of "nondirectiveness" -- an approach sometimes neglected in settings where medical direction is usually given -- is clearly presented. The specifics regarding the counseling visit and the items needed in the consent for genetic testing are outlined in detail. Although it is not discussed, the chief barrier to genetic counseling is financial reimbursement. Up to four hours of a counselor's time are needed for the assessment of risk and patient education. Yet no mechanism for reimbursement of these services exists in the U.S. medical system. Solutions are desperately needed in an environment in which clinical genetics is becoming an increasingly important part of the practice of medicine. Ethical issues in regard to genetic testing for susceptibility to cancer are discussed in chapter 3. This chapter is possibly the best presentation of this topic available and is important reading for all clinicians who wish to understand clearly the unique issues involved in genetic testing. Three basic principles are discussed: beneficence toward the patient, respect for patient autonomy, and justice or fair treatment. These same principles could well be applied to most areas in the practice of medicine. Chapter 4 is an appropriate follow-up and succinctly reviews all sides of the legal issues that concern insurance, legislation, and privacy in genetic testing. The chapters on syndromes are divided by type of cancer, and each includes discussions of risk assessment, indications for genetic testing, interpretation of test results, and integration into clinical management of risk estimates and results of genetic testing. The chapter on breast cancer also provides an insightful discussion of surrogate end-point markers. Each syndrome of susceptibility to polyposis and nonpolyposis colon cancer is described, with algorithms as to when genetic testing is indicated. Guidelines for prevention and management follow. The history and genetics of hereditary nonpolyposis colorectal cancer is particularly well outlined. Possible approaches to the prevention of ovarian cancer are given. The efforts to discover genes for familial urologic cancers are summarized, and, finally, genetic testing and the management of multiple endocrine neoplastic syndromes are presented. Missing from the chapters on specific cancers are discussions of inherited multiple melanoma and of nonsyndrome familial colon cancer; such a discussion is nicely presented in the chapter on breast cancer. This book provides the knowledge base needed for most physicians to incorporate the principles of inherited susceptibility to cancer and genetic testing properly into their practices. It is highly, since many physicians and health care workers have not been trained in this area, which has become an established part of clinical medicine. Randall W. Burt, M.D.
Copyright © 2004 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.

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