Inherited Cancer Syndromes: Current Clinical Management PDF
Preview Inherited Cancer Syndromes: Current Clinical Management
Inherited Cancer Syndromes wwwwwwww C. Neal Ellis Editor Inherited Cancer Syndromes Current Clinical Management Second Edition Editor C. Neal Ellis Professor of Surgery Department of Surgery University of South Alabama Medical Center Mobile, AL 36617 USA [email protected] ISBN 978-1-4419-6820-3 e-ISBN 978-1-4419-6821-0 DOI 10.1007/978-1-4419-6821-0 Springer New York Dordrecht Heidelberg London Library of Congress Control Number: 2010938363 © Springer Science+Business Media, LLC 2011 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. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) Contents 1 Obtaining and Using Genetic Information ........................................... 1 C. Neal Ellis 2 Cancer and Genetic Counseling ............................................................ 23 Brandie Heald and James M. Church 3 An Ethos of Genetic Testing ................................................................... 35 Roy E. Gandy and Charles B. Rodning 4 Hereditary Breast Cancer Syndromes .................................................. 51 Alfredo A. Santillan, Jeffrey M. Farma, Ramona Hagmaier, Charles E. Cox, and Adam I. Riker 5 Gastrointestinal Polyposis Syndromes .................................................. 105 William J. Harb 6 Familial Colorectal Cancer Type X ....................................................... 127 Deborah A. Nagle and Vitaliy Poylin 7 The Familial Atypical Multiple Mole Melanoma (FAMMM)-Pancreatic Carcinoma (PC) Syndrome ............................. 135 Adam I. Riker and Ramona Hagmaier 8 Desmoid Disease ...................................................................................... 145 James M. Church 9 Hereditary Nonpolyposis Colorectal Cancer ........................................ 161 W. Donald Buie and Anthony R. MacLean 10 Hereditary Ovarian Cancer and Other Gynecologic Malignancies ........ 181 Kathryn R. Brown and Lynn P. Parker Index ................................................................................................................. 197 v wwwwwwww Contributors Kathryn R. Brown, MD Department of Obstetrics, Gynecology and Women’s Health, University of Louisville Hospital, Louisville, KY 40202, USA W. Donald Buie, MD, MSc, FRCS(C), FACS Department of Surgery, Division of General Surgery, University of Calgary, Calgary, Canada; 1403 29th St., NW Calgary, Alberta Canada T3H 1L8 James M. Church, MD, ChB, FRACS Department of Colorectal Neoplasia, Sanford R. Weiss Center for Hereditary Colorectal Cancer, Cleveland Clinic Foundation, Cleveland, OH 44195, USA Charles E. Cox, MD, FACS McCann Foundation Endowed Professor of Breast Surgery, Director, Breast Health Clinical and Research Integrated Strategic Program (CRISP), USF Health Department of Surgery, Carol and Frank Morsani Center for Advanced Health Care, Tampa, FL 33612, USA C. Neal Ellis, MD Division of Colon and Rectal Surgery, West Penn Allegheny Health System, PA 15212, Pittsburgh Jeffrey M. Farma, MD Assistant Professor of Surgery, Department of Surgical Oncology, Fox Chase Cancer Center, Philadelphia, PA 19111, USA Roy E. Gandy, MD Department of Surgery, University of South Alabama Medical Center, Mobile, AL 36617, USA Ramona Hagmaier, MHS, PA-C Physician Assistant, Skin Perfection Medical Spa, Mobile, AL 36695, USA vii viii Contributors William J. Harb, MD Baptist Hospital, Nashville, TN, USA and Cumberland Surgical Associates, PLC 2011 Church St. Suite 703, Nashville, TN 37203, USA Brandie Heald, MS, CGC Genomic Medicine Institute and the Sanford R. Weiss Center for Hereditary Colorectal Neoplasio, Cleveland Clinic Foundation, Cleveland, OH 44195, USA Anthony R. MacLean, MD, FRCS(C), FACS Clinical Associate Professor of Surgery, Department of Surgery; Program Director, Division of General Surgery, University of Calgary, Calgary, AB, Canada Deborah A. Nagle, MD Division of Colon and Rectal Surgery, Beth Israel Deaconess Medical Center, Harvard University, Boston, MA 02215, USA Lynn P. Parker, MD Director, Gynecology, Department of Obstetrics, Gynecology and Women’s Health, University of Louisville Hospital, Louisville, KY 40202, USA Vitaliy Poylin, MD Department of Surgery, Beth Israel Deaconess Medical Center/Harvard University School of Medicine, Boston, MA 02215, USA Adam I. Riker, MD Oshsner Cancer Institute, Department of Surgery, 1514 Jefferson, New Orleans, LA, USA Charles B. Rodning, MD, PhD Professor, Department of Surgery, University of South Alabama Medical Center, Mobile, AL 36617, USA Alfredo A. Santillan, MD, MPH Division of Surgical Oncology, Department of Surgery, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio, 78229 San Antonio, TX, USA Chapter 1 Obtaining and Using Genetic Information C. Neal Ellis Introduction Our current understanding of the molecular pathophysiology of cancer explains many of the important epidemiology and clinical observations that have been made in the last 100 years. For example, the identification and characterization of genes responsible for hereditary cancer syndromes have explained the predisposition of members of affected families to develop site-specific cancer at a relatively young age [1]. A positive family medical history is now a leading risk factor for the sub- sequent development of many diseases including diabetes, neurologic disorders such as Huntington’s chorea, atherosclerotic coronary vascular disease and many cancers including breast, ovarian, colon, and prostate cancer and melanoma [1–6]. The understanding of the molecular basis of cancer has been evolving rapidly since the completion of the Human Genome project. Several specific gene mutations have been implicated in predisposing patients to a variety of hereditary cancer syn- dromes [7–17]. This understanding has provided the ability to use genetic testing to estimate the risk, predict onset, and aid in assessing the prognosis of many forms of cancer. However, these genetic tests have also created complex issues and con- troversies regarding the use of the information obtained. The appropriate interpreta- tion of test results with the implications for screening, preventive interventions, or clinical management decisions are not yet fully defined. Cancer control efforts to reduce the incidence of cancer have focused primarily on prevention and early detection. These efforts will be most beneficial for indi- viduals who are at highest risk. Thus, it is imperative that healthcare providers become familiar with the tools to assess a person’s genetic risk of cancer, the gen- eral benefits and limitations of genetic testing in medical practice, and the process of making informed decisions about diagnosis and treatment of malignant disor- ders. The objective of this chapter is to generate a practical guide to aid physicians C.N. Ellis (*) Division of Colon and Rectal Surgery, West Penn Allegheny Health System, PA, 15212, Pittsburgh e-mail: [email protected] C.N. Ellis (ed.), Inherited Cancer Syndromes: Current Clinical Management, 1 DOI 10.1007/978-1-4419-6821-0_1, © Springer Science+Business Media, LLC 2011
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