Managing BRCA Mutation Carriers
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1 Managing BRCA Mutation Carriers
2 Anees B. Chagpar Editor Managing BRCA Mutation Carriers 123
3 Editor Anees B. Chagpar Yale Comprehensive Cancer Center Yale University School of Medicine New Haven, CT USA ISBN ISBN (ebook) DOI / Library of Congress Control Number: Springer International Publishing AG 2017 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
4 Preface Over the last several decades, there has been an explosion in our knowledge base regarding the genetic basis of breast cancer. With the discovery of novel genes, and with novel technology that has made genetic testing more easily available and affordable, there has been increasing interest on the part of patients and providers to access these services. Celebrities like Angelina Jolie have come forth to tell their story, and more patients are now aware of their family history and genetic risk. At the same time, with the Supreme Court s overturning of the Myriad patent and with the development of affordable panels for genetic testing for breast cancer risk, there has been a democratization of access to this technology. With this, however, has come a barrage of issues that bombard clinicians working in this space. How do we risk stratify our patients? Who should receive genetic testing? When should we use panels? How do we interpret a variant of uncertain significance? As more patients undergo genetic testing, we are increasingly faced with questions surrounding the value of prophylactic mastectomy, oophorectomy, or how best to surveil our patients who opt not to undergo mastectomy. In patients who are diagnosed with cancer and who harbor a genetic mutation, nuances exist in terms of their surgical, medical, and radiation management. Clearly, fertility preservation and preimplantation genetic assessment are also considerations. And of course, more men with genetic mutations are diagnosed with breast cancer, and they warrant specific considerations. Finally, throughout the journey from genetic assessment through surgery and survivorship patients with genetic mutations have a variety of psychosocial considerations and may have concerns about the legal implications of their diagnosis. This book is intended to help clinicians navigate this complex landscape. We are incredibly grateful to the stellar authors who have participated in this project. Their expertise is unparalleled, and we appreciate their thoughtful consideration in preparing the chapters herein. In addition, we are grateful to Stephanie Frost and the rest of the team at Springer for their assistance in bringing this work to fruition. We hope that you should find this volume of interest, and helpful to you in your practice. We look forward to your feedback! New Haven, CT, USA Anees B. Chagpar v
5 Contents 1 Risk Assessment for Breast Cancer Anvy Nguyen, Jessica Cintolo-Gonzalez, Jennifer K. Plichta and Kevin S. Hughes 2 Genetic Evaluation for Women at Increased Risk Karina L. Brierley, Claire L. Healy and Erin W. Hofstatter 3 Imaging Screening and Surveillance Ellen Warner 4 Risk-Reducing Surgery for BRCA1/2 Genetic Mutation Carriers Cristina O Donoghue, Sonia Orcutt, Tuya Pal and Christine Laronga 5 Prophylactic Oophorectomy for Patients with Germline BRCA Mutations Dario R. Roque and Don S. Dizon 6 Pathology of BRCA Tumors Julio A. Ibarra 7 Surgical Management of Breast Cancer in BRCA Mutation Carriers Patricia A. Cronin and Hiram S. Cody III 8 Medical Management of Breast Cancer in BRCA Mutation Carriers Soley Bayraktar and Banu K. Arun 9 Radiation Oncology Considerations in the Management of Mutation Carriers with Breast Cancer Meena S. Moran 10 Fertility Preservation in BRCA Carriers: Special Considerations Iris G. Insogna, Elizabeth S. Ginsburg and Ann H. Partridge vii
6 viii Contents 11 Management of Male BRCA Mutation Carriers Donna-Marie Manasseh, Ryland J. Gore and Patrick I. Borgen 12 Psychosocial, Ethical, and Legal Implications for Mutation Carriers Jacquelyn M. Powers, Jessica M. Long and Willonie Mendonca Index
7 Contributors Banu K. Arun Department of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA Soley Bayraktar Department of Medical Oncology, Memorial Cancer Center, Istanbul, Turkey Patrick I. Borgen Department of General Surgery, Maimonides Medical Center, Brooklyn, NY, USA Karina L. Brierley Smilow Cancer Genetics and Prevention Program, Yale New Haven Hospital, New Haven, CT, USA Jessica Cintolo-Gonzalez Department of Surgical Oncology, Massachusetts General Hospital, Boston, MA, USA Hiram S. Cody, III Breast Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical College, New York, NY, USA Patricia A. Cronin Memorial Sloan Kettering Cancer Center, Breast Service, Evelyn Lauder Breast and Imaging Center, New York, NY, USA Don S. Dizon Department of Medicine, Massachusetts General Hospital Cancer Center, Boston, MA, USA Elizabeth S. Ginsburg Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA Ryland J. Gore Department of General Surgery, Maimonides Medical Center, Brooklyn, NY, USA Claire L. Healy Smilow Cancer Genetics and Prevention Program, Yale New Haven Hospital, New Haven, CT, USA Kevin S. Hughes Department of Surgical Oncology, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Bermuda Cancer Genetics and Risk Assessment Clinic, Hamilton, Bermuda; Avon Comprehensive Breast Evaluation Center, Massachusetts General Hospital, Boston, MA, USA ix
8 x Contributors Erin W. Hofstatter Department of Medical Oncology, Smilow Cancer Genetics and Prevention Program, Yale New Haven Hospital/Yale School of Medicine, New Haven, CT, USA Julio A. Ibarra Orange Coast Memorial Medical Center, Fountain Valley, CA, USA; Department of Pathology, University of California at Irvine, Irvine, CA, USA Iris G. Insogna Department of Obstetrics and Gynecology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA Christine Laronga Department of Breast Oncology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA Jessica M. Long Department of Medicine, Division of Hematology-Oncology and Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA Donna-Marie Manasseh Department of General Surgery, Maimonides Medical Center, Brooklyn, NY, USA Willonie Mendonca GeneDx Laboratories, Gaithersburg, MD, USA Meena S. Moran Therapeutic Radiology, Yale University School of Medicine, New Haven, CT, USA; Yale New Haven Hospital, New Haven, CT, USA Anvy Nguyen Department of Surgical Oncology, Massachusetts General Hospital, Boston, MA, USA Cristina O Donoghue Department of Breast Oncology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA Sonia Orcutt Department of Breast Oncology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA Tuya Pal Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA Ann H. Partridge Department of Medical Oncology, Dana-Farber Cancer Institute, Brookline, MA, USA; Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, USA Jennifer K. Plichta Department of Surgery, Duke University Medical Center, Durham, NC, USA Jacquelyn M. Powers Department of Medicine, Division of Hematology- Oncology and Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA Dario R. Roque Department of Obstetrics and Gynecology, Program in Women s Oncology, Women and Infants Hospital/The Warren Alpert Medical School at Brown University, Providence, RI, USA
9 Contributors xi Ellen Warner Medical Oncologist, Sunnybrook Health Sciences Centre, Department of Medicine, Division of Medical Oncology, University of Toronto, Toronto, ON, Canada
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