Counseling About Cancer E-Book

Katherine A. Schneider

• Herausgeber: John Wiley & Sons
• Kategorie: Fachliteratur
• Sprache: Englisch

Seitenzahl: 809

Veröffentlichungsjahr: 2011

Beschreibung

Important scientific discoveries and ever-changing guidelines for how to identify and manage patients with hereditary cancer syndromes are constantly evolving. This Third Edition of Counseling About Cancer is completely updated and expanded to feature five entirely new chapters on breast cancer, colon cancer, other solid tumors, clients and families, and genetic test results and follow-up. This is the only reference and clinical book on the market for cancer genetics counselors and other healthcare providers who must quickly assimilate complex and ever-changing data on the hereditary risk for cancer.

Leseprobe

Table of Contents

Cover

Title page

Copyright page

Dedication

Foreword

Preface

Acknowledgments

CHAPTER 1 Cancer Epidemiology

1.1. CANCER STATISTICS

1.2. CANCER ETIOLOGY

1.3. CASE EXAMPLES

CHAPTER 2 Cancer Detection and Treatment

2.1. THE DIAGNOSIS OF CANCER

2.2. TUMOR CLASSIFICATION

2.3. CANCER TREATMENT

CHAPTER 3 Cancer Biology

3.1. THE MALIGNANT CELL

3.2. CARCINOGENESIS

3.3. ONCOGENES

3.4. TUMOR SUPPRESSOR GENES

3.5. EPIGENETIC MECHANISMS

CHAPTER 4 Hereditary Cancer Syndromes

4.1. ATAXIA TELANGIECTASIA

4.2. AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALSO CANALE–SMITH SYNDROME)

4.3. BECKWITH–WIEDEMANN SYNDROME (ALSO EXOMPHALOS MACROGLOSSIA GIGANTISM [EMG] SYNDROME)

4.4. BIRT–HOGG–DUBÉ SYNDROME

4.5. BLOOM SYNDROME

4.6. BLUE RUBBER BLEB NEVUS SYNDROME (ALSO TERMED BEAN SYNDROME)

4.7. BREAST–OVARIAN CANCER SYNDROME, HEREDITARY

4.8. CARNEY COMPLEX, TYPES I AND II (INCLUDES NAME SYNDROME AND LAMB SYNDROME)

4.9. DIAMOND–BLACKFAN ANEMIA

4.10. FAMILIAL ADENOMATOUS POLYPOSIS (ALSO ATTENUATED FAP, GARDNER’S SYNDROME, TURCOT SYNDROME, AND HEREDITARY DESMOID DISEASE)

4.11. FANCONI ANEMIA

4.12. GASTRIC CANCER, HEREDITARY DIFFUSE

4.13. GASTROINTESTINAL STROMAL TUMOR, FAMILIAL (ALSO MULTIPLE GI AUTONOMIC NERVE TUMORS)

4.14. JUVENILE POLYPOSIS (INCLUDES HEREDITARY MIXED POLYPOSIS)

4.15. LEIOMYOMATOSIS RENAL CELL CANCER, HEREDITARY

4.16. LI–FRAUMENI SYNDROME

4.17. LYNCH SYNDROME (ALSO TERMED HNPCC)

4.18. MELANOMA, CUTANEOUS MALIGNANT (INCLUDES FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME, DYSPLASTIC NEVUS SYNDROME, AND MELANOMA–ASTROCYTOMA SYNDROME)

4.19. MULTIPLE ENDOCRINE NEOPLASIA, TYPE 1 (ALSO WERMER SYNDROME)

4.20. MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2 (ALSO SIPPLE SYNDROME, FAMILIAL MEDULLARY THYROID CARCINOMA SYNDROME)

4.21. MYH-ASSOCIATED POLYPOSIS

4.22. NEUROBLASTOMA, FAMILIAL

4.23. NEUROFIBROMATOSIS, TYPE 1 (ALSO VON RECKLING­HAUSEN DISEASE)

4.24. NEUROFIBROMATOSIS, TYPE 2

4.25. NEVOID BASAL CELL CARCINOMA SYNDROME (ALSO GORLIN SYNDROME, BASAL CELL NEVUS SYNDROME)

4.26. PARAGANGLIOMA–PHEOCHROMOCYTOMA SYNDROME, HEREDITARY (INCLUDING CARNEY–STRATAKIS SYNDROME)

4.27. PEUTZ-JEGHERS SYNDROME

4.28. PTEN HAMARTOMA SYNDROME (PHS) (ALSO COWDEN SYNDROME; INCLUDES BANNAYAN–RILEY–RUVALCABA SYNDROME AND PROTEUS SYNDROME)

4.29. RENAL CELL CARCINOMA, HEREDITARY PAPILLARY

4.30. RETINOBLASTOMA, HEREDITARY

4.31. ROTHMUND–THOMSON SYNDROME

4.32. TUBEROUS SCLEROSIS COMPLEX (TSC)

4.33. VON HIPPEL LINDAU SYNDROME

4.34. WERNER SYNDROME (ALSO TERMED PROGERIA OF THE ADULT)

4.35. WILMS TUMOR, FAMILIAL (INCLUDES DENYS-DRASH SYNDROME, FRASIER SYNDROME, WAGR SYNDROME)

4.36. XERODERMA PIGMENTOSUM (INCLUDES XP/CS COMPLEX, XP VARIANT)

CHAPTER 5 All about Breast Cancer

5.1. OVERVIEW OF BREAST CANCER

5.2. BREAST CANCER MANAGEMENT: SCREENING, DIAGNOSIS, AND TREATMENT

5.3. BREAST CANCER SYNDROMES

CHAPTER 6 All about Colorectal Cancer

6.1. OVERVIEW OF COLORECTAL CANCER

6.2. CRC MANAGEMENT: SCREENING, DIAGNOSIS, AND TREATMENT

6.3. CRC SYNDROMES

CHAPTER 7 Collecting and Interpreting Cancer Histories

7.1. COLLECTING A CANCER HISTORY

7.2. CHALLENGES TO COLLECTING AN ACCURATE HISTORY

7.3. INTERPRETING A CANCER HISTORY

7.4. CASE EXAMPLES

CHAPTER 8 Cancer Risk Communication

8.1. GENETIC COUNSELING AND RISK PERCEPTION

8.2. THE COMMUNICATION OF RISK

8.3. COUNSELING CLIENTS AT VARIOUS RISKS

8.4. CASE EXAMPLES

CHAPTER 9 Genetic Testing and Counseling

9.1. THE LOGISTICS OF ARRANGING TESTS

9.2. PRETEST COUNSELING

9.3. RESULTS DISCLOSURE AND FOLLOW-UP

9.4. CASE EXAMPLES

CHAPTER 10 Psychosocial Aspects of Cancer Counseling

10.1. THE PSYCHOSOCIAL FEATURES OF CLIENTS

10.2. MAKING A PSYCHOSOCIAL ASSESSMENT

10.3. PROVIDING ADDITIONAL EMOTIONAL SUPPORT

10.4. CASE EXAMPLES

CHAPTER 11 Ethical Issues in Cancer Genetic Counseling

11.1. BIOETHICAL PRINCIPLES AND GUIDELINES

11.2. STRATEGIES FOR RESOLVING ETHICAL DILEMMAS

11.3. TYPES OF ETHICAL DILEMMAS IN CANCER GENETIC COUNSELING

11.4. ISSUES OF JUSTICE

APPENDIX A: Specific Tumor Types and Associated Syndromes

APPENDIX B: Review of Basic Pedigree Symbols

Index

Copyright © 2012 by Wiley-Blackwell. All rights reserved

Published by John Wiley & Sons, Inc., Hoboken, New Jersey

Published simultaneously in Canada

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Library of Congress Cataloging-in-Publication Data:

Schneider, Katherine A.

 Counseling about cancer : strategies for genetic counseling / Katherine A. Schneider. — 3rd ed.

p. ; cm.

 Includes bibliographical references and index.

 ISBN 978-0-470-08150-1 (paper)

 1. Cancer—Genetic aspects. 2. Cancer—Patients—Counseling of. 3. Genetic counseling. I. Title.

 [DNLM: 1. Neoplasms—genetics. 2. Neoplasms—psychology. 3. Genetic Counseling. 4. Neoplasms—nursing. QZ 200]

 RC268.4.S355 2012

 616.99'4042—dc22

2011010973

oBook ISBN 9781118119921

ePDF ISBN 9781118119891

ePub ISBN 9781118119914

eMobi ISBN 9781118119907

This book is dedicated to

my father, Donald G. Daviau

and

my three sons

Nicholas, Christopher, and Jordan

Foreword

When Katherine Schneider wrote the first edition of Counseling About Cancer, cancer genetics was an emerging area of research and patient care. Today, it is an established subspecialty within genetics and oncology, with important interactions with many other medical specialties. In cancer centers and other academic centers, genetic counselors provide comprehensive information across a range of conditions. They assess individuals and families for the hereditary component of cancer risk, arrange molecular evaluations, facilitate enrollment to a complex menu of research studies, and provide counseling to patients and families as to the implications of their genetic test results, whether positive, negative, or inconclusive. They see patients with an ever-expanding range of conditions for which susceptibility genes have been identified, from rare pediatric bone marrow disorders to common adult cancer syndromes. In the more common adult hereditary cancer syndromes, genetic counselors assist medical oncologists and surgeons to help patients consider whether genetic information will influence options for managing their cancers. At the same time, health-care providers without formal genetics training have been doing very focused genetic testing, encouraged and supported by the genetics diagnostics industry. The contrast serves to highlight the breadth and depth of the knowledge base that genetic counselors must master, in addition to their expertise in counseling and their required organizational talents.

In this expanded volume, Kathy has once again provided a comprehensive and accessible resource. She has expanded all of the previous chapters, from epidemiology and molecular biology to the 36 conditions detailed in the most encyclopedic chapter. She has added two chapters focusing in detail on breast and colorectal cancers. These chapters reflect her understanding of the need for genetic counselors to become familiar with the data on the efficacy and limitations of options for screening, surgical treatment, and prophylactic surgeries, not to take the place of surgeons, gastroenterologists, or oncologists, but to help make clear the places where a germline mutation can affect medical options and decisions.

Genetics continues to be an exploding area, perhaps even faster than before. The fourth edition of this book will almost certainly include information about the implications of SNPs identified in genome-wide association studies, the issues associated with the use and results of full sequencing, and the challenges of making sure that the power of genetics is accessible to all. Genetic information from analyses of tumors and germline will increasingly be used to guide cancer therapies. Pharmacogenetic data will likely be considered in the personalization of cancer care. However, all of these frontiers are not yet ready for prime time, and do not yet reach the level of practical importance to merit inclusion in the third edition. Genetic counselors will surely remain on the front lines of the ongoing genetics revolution, helping to translate this explosive scientific progress to patients and to educate their providers as well. Fortunately, they have a new version of the Kathy Schneider resource to guide them.

JUDY E. GARBER, MD, MPH

Director, Center for Cancer Genetics and Prevention

Dana-Farber Cancer Institute

February 2011

Preface

Clinical cancer genetics has grown by leaps and bounds since the last edition of this textbook was published almost 10 years ago. There are more hereditary cancer syndromes, clinical genetic tests, cancer monitoring options, and a great many more cancer genetic providers. Advances in molecular and clinical cancer genetics continue to occur at a dizzying pace, providing hope that the future will indeed hold better ways to detect, treat, and prevent inherited forms of cancer.

As noted in a Spider-Man comic, “With great power comes great responsibility.” Despite all the clinical and scientific changes in cancer genetics, the primary aim of cancer genetic counseling, which is to help clients and their families, has stayed the same. In fact, clients continue to ask the same types of questions: Will I develop cancer? Will my child develop cancer? What can I do to protect myself and my child from getting cancer?

Our responsibility as cancer genetic counselors is to find the best way to educate clients and families about their cancer risks and their options for genetic testing and cancer monitoring. To provide quality cancer genetic counseling, one must:

provide clients with information that is both useful and accurateidentify clients and families who are at increased risk for hereditary cancersassist clients through the genetic testing processhelp clients, their relatives, and their health-care providers to understand the implications of genetic test resultsprovide support to clients during emotionally laden discussionsfacilitate the referral of clients to the appropriate medical providers

The earlier versions of Counseling About Cancer were borne out of a need to create a useful resource for a new genetic counseling specialty. At this point in time, cancer genetic counseling has established itself as a critically important medical specialty and serves as a model of excellence for other adult-onset genetic disorders.

Counseling About Cancer, Third Edition reflects the growing sophistication of our profession and offers an expanded discourse on all facets of the cancer genetic counseling process.

Chapters 1–3 provide detailed background information regarding cancer statistics, risk factors, cancer biology, cancer terminology, and detection and treatment strategies. Each chapter has been substantially revised. Chapter 4 describes 36 hereditary cancer syndromes, including cancer risks, diagnostic criteria, genetic testing options, and links to resources for families.

Since most cancer genetic counselors provide counseling about breast cancer and/or colorectal cancer, this edition has added two new chapters. Chapter 5 focuses on hereditary breast cancer and Chapter 6 focuses on hereditary colorectal cancer. These chapters provide detailed information about these two forms of cancer, including normal anatomy, common types of tumors, possible hereditary cancer syndromes, and suggestions for monitoring high-risk individuals.

Chapters 7–9 provide greatly revamped discussions regarding the collection of family history information, cancer risk communication, and pre- and posttest genetic counseling. Each chapter includes definitions, discussions about potential challenges, as well as the strategies with which to meet these challenges.

Chapters 10 and 11 offer detailed looks at the complex psychological and ethical issues that cancer genetic counselors may encounter. These two chapters have been largely rewritten and provide a much more in-depth look at these important arenas.

Counseling About Cancer, Third Edition also includes an increased number of tables and figures to supplement the text as well as an appendix that contains tables of possible cancer syndromes by organ type. This edition also offers 14 new case stories that illustrate the strategies listed in each chapter and demonstrate the complexities of this type of genetic counseling.

I hope that this textbook serves as a useful resource for practicing genetic counselors, other clinicians who work in cancer genetics or other specialty areas, as well as genetic counseling students.

KATHERINE A. SCHNEIDER, MPH

Center for Cancer Genetics and Prevention

Dana-Farber Cancer Institute

August 2011

Acknowledgments

I am grateful for the many wonderful people in my life who helped me with the completion of this book. First, thank you to my editor, Thomas H. Moore, and to my four reviewers—Robert Resta, Janice Berliner, Anu Chittenden, and Vickie Venne—who faithfully read the chapters and provided such invaluable feedback.

I owe a huge debt to the wonderful group of genetic counselors with whom I work—Emily Brown, Anu Chittenden, Monica Dandapani, Carly Grant, Claire Healy, Elaine Hiller, Shelley McCormick, and Irene Rainville. Thanks also to Sapna Syngal, Elena Stoffel, Frederick Li, Lisa Diller, Andrea Patenaude, Perrin Schilling, and Jennifer Wiernicki for your assistance. And a special thank you to Judy E. Garber who granted me with protected time to write—I would not have been able to complete this edition without your understanding and support.

I am also grateful for the other colleagues who helped me along the way, including Robin Bennett, Saundra Buys, Charis Eng, Meredith Keenan, and June Peters. And I am grateful for the many special clients and families with whom I have worked over the years. Thanks also to the Ethics Advisory Board at the Dana-Farber Cancer Institute and for the Ethics Fellowship Award allowing me to further my study of ethics.

Thank you to my friends who encouraged and supported me along the way: Elisabeth Daniels, Daniel Hulub, Bradford Kinne, Donna McCurdy, and Sabrina Popp; my siblings, Robert, Thomas, and Julia; and especially my loving mother, Patricia E. Daviau.

Lastly I remain indebted to the Jane Engelberg Memorial Fellowship for awarding me the grant to allow the development of the first edition of this book. It was the opportunity of a lifetime.

K.A.S.

CHAPTER 1

Cancer Epidemiology

The problem may be briefly stated: What does: “median mortality of eight months” signify in our vernacular? I suspect that most people, without training in statistics, would read such a statement as “I will probably be dead in eight months”—the very conclusion that must be avoided, since it isn’t so and since attitude matters so much. … When I learned about the eight-month median, my first intellectual reaction was: fine, half the people will live longer, now what are my chances of being in that half.

(Gould,2004, pp. 139–140)

Cancer epidemiologists seek to answer the question, “Why did these people develop these particular cancers at this time?” Cancer epidemiology is the study of cancer incidence and mortality within a population. This chapter provides current cancer statistics and a description of the many known or suspected causes of cancer.

1.1. CANCER STATISTICS

This section describes the incidence and mortality rates of specific cancers, and the differences in cancer rates by ethnic group and geographic location. First, here is a brief review of the terminology commonly used in cancer statistics.

Incidence—This refers to the number of new events (i.e., cancer diagnoses or deaths) that have occurred in a defined population during a specified period of time. This is the term most frequently used in reports of cancer statistics. For example, in the fictitious city of Madison, there were 14,000 new cases of lung cancer in 2008. Therefore, the 2008 incidence of lung cancer in Madison is 14,000.Prevalence—This is the number of disease cases (i.e., cancer cases) in a defined population at a designated time. Prevalence includes both individuals newly diagnosed with cancer (incidence) and those who are survivors of the disease. Thus, cancers with high survival rates will have higher prevalence within a population than malignancies that cause rapid mortality. For example, in Madison, there were 14,000 new cases of lung cancer in 2008 and 5000 lung cancer survivors. Thus, the 2008 prevalence of lung cancer in Madison is 19,000.Rate—This is a way of measuring disease frequency that allows comparisons between populations or subsets of populations. Frequently used examples include the incidence rate, prevalence rate, and cancer survival rate. To obtain the incidence rate, divide the number of new cases over a fixed time interval by the number of people in the population during that time. It is also conventional to use a denominator of fixed size in order to compare the rate to other disorders or populations. For example, 14,000 new cases of lung cancer were diagnosed in Madison, which has a total population of 2 million. This means that the incidence rate of lung cancer in Madison is 0.7 or 700 cases per 100,000 people (14,000 [incidence] divided by 2 million [population]).Relative risk—This is a ratio of risk between two populations or groups. A value of 1.0 means that there is no difference in the risks of cancer in two groups, while a value above 1.0 means that there is a higher risk in one group. For example, in the neighboring city of Jefferson, the incidence rate of lung cancer is only 300 per 100,000 people. Therefore, the people in Madison (with a lung cancer incidence rate of 700 per 100,000) have a relative risk of lung cancer that is 2.3 times higher than those living in Jefferson.

1.1.1. CANCER INCIDENCE IN THE UNITED STATES

Almost everyone has a relative or friend who has developed cancer. A glance at the 2011 cancer rates in Table 1.1 explains why: cancer is a very common disease. In the United States, lifetime cancer risks are 1 in 3 for women and 1 in 2 for men. Nearly 1.6 million new cases were diagnosed in 2011, and this number seems to increase each year.

TABLE 1.1. PROBABILITY THAT MEN AND WOMEN IN THE UNITED STATES WILL DEVELOP CANCER OVER THEIR LIFETIME

Source: American Cancer Society (2011, p. 14).

Excludes nonmelanoma skin cancer.

Cancer types and rates differ for men and women. In the United States, the leading sites of cancer in 2011 were prostate cancer for men (see Table 1.2) and breast cancer for women (see Table 1.3). For both sexes, lung cancer ranks second and colorectal cancer ranks third.

TABLE 1.2. MOST COMMON FORMS OF CANCER FOR MEN IN THE UNITED STATES: 2011 ESTIMATES

Source: American Cancer Society (2011, p. 10).

CancerNumber of New CasesPercentage of CasesProstate240,89029%Lung and bronchus115,06014%Colon and rectum71,8509%Urinary bladder52,0206%Melanoma of the skin40,0105%Kidney and renal pelvis37,1205%Non-Hodgkin lymphoma36,0604%Oral cavity and pharynx22,7103%Leukemia25,3203%Pancreas22,0503%

TABLE 1.3. MOST COMMON FORMS OF CANCER FOR WOMEN IN THE UNITED STATES: 2011 ESTIMATES

Source: American Cancer Society (2011, p. 10).

CancerNumber of New CasesPercentage of CasesBreast230,48030%Lung and bronchus106,07014%Colon and rectum69,3609%Uterine corpus46,4706%Thyroid36,5505%Non-Hodgkin lymphoma30,3004%Melanoma of the skin30,2204%Kidney and renal pelvis23,8003%Ovary21,9903%Pancreas21,9803%

In general, cancer risk increases with age, with the highest incidence occurring in people over age 65. Childhood cancers are relatively rare and account for less than 1% of all new cancer diagnoses. By far the most common childhood cancer is acute leukemia, which accounts for 34% of all pediatric cancers. See Table 1.4 for a listing of the most frequent forms of childhood cancer.

TABLE 1.4. CANCER INCIDENCE AND MORTALITY STATISTICS FOR CHILDREN AGED 19 YEARS AND YOUNGER

Source: National Cancer Institute SEER Cancer Statistics Review, 1975–2003, 2006.

CancerIncidenceMortalityLeukemia8.61.2Brain and other nervous system3.30.7Soft tissue1.00.1Non-Hodgkin lymphoma0.90.1Kidney and renal pelvis0.80.1Bone and joint0.70.1Hodgkin’s lymphoma