Principles of Clinical Cancer Genetics A Handbook from the Massachus
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 s
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Daniel C. Chung Daniel A. Haber Editors ●
Principles of Clinical Cancer Genetics: A Handbook from the Massachusetts General Hospital
Editors Daniel C. Chung Massachusetts General Hospital Cancer Center and Gastrointestinal Unit Harvard Medical School Boston, MA USA [email protected]
Daniel A. Haber Massachusetts General Hospital Cancer Center Harvard Medical School and Howard Hughes Medical Institute Boston, MA USA [email protected]
ISBN 978-0-387-93844-8 e-ISBN 978-0-387-93846-2 DOI 10.1007/978-0-387-93846-2 Springer New York Dordrecht Heidelberg London Library of Congress Control Number: 2010926039 © Springer Science+Business Media, LLC 2010 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
Preface
Cancer is fundamentally a genetic disorder, and the rapid accumulation of insights into the broad spectrum of genetic alterations that underlie human cancers has been staggering. Equally exciting has been the translation of many of these insights into the clinical management of patients with cancer or at high risk of developing cancer. Over the past decade, the field of “clinical cancer genetics” has entered a renaissance that has thrust it into an integral position in modern cancer care. Our goal with this textbook is to provide a comprehensive reference on current topics in cancer genetics for the clinician. At the Massachusetts General Hospital Cancer Center, our multidisciplinary group of clinicians, basic scientists, translational scientists, and geneticists strive to seamlessly integrate cancer genetics into the care of our patients and their families. The basic principles of cancer genetics (Chapter 1) and genetic testing (Chapter 2) are first reviewed. In Chapters 3–13, we highlight the hereditary cancer syndromes most commonly encountered in the clinic, focusing on the underlying genetics, clinical presentations, screening and surveillance strategies, genetic testing algorithms, risk-reduc
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