Counseling About Cancer

A key resource for all genetic counselors and other healthcare providers, this comprehensive reference has been completely updated and reorganized for its fourth edition

Over 50 hereditary cancer predisposition genes have now been identified. Genetic testing can be a powerful tool in assessing individual cancer risk and creating robust medical plans, but can also be a complex process, with personal and familial factors carrying real emotional weight. As such, genetic counseling for patients and their families during the process of genetic testing is critical.

Counseling about Cancer: Strategies for Genetic Counseling is the only comprehensive resource available for clinicians who want to understand and apply these dimensions of patient care. This updated and reorganized edition provides detailed information designed to be incorporated in a variety of clinical and health-care contexts. Updated with the latest guidance and research, it promises to continue as the indispensable guide to this challenging subject.

Readers of the fourth edition of Counseling about Cancer will also find:

• New chapters analyzing pediatric cancer syndromes, genetic testing technology, and more
• Increased focus on gynecological cancer syndromes and related genes
• Detailed case studies to reinforce themes of each chapter

Counseling about Cancer is a useful reference for genetic counselors and other healthcare providers looking to familiarize themselves with best practices of patient counseling and care.

Foreword xi

Preface xiii

Acknowledgments xv

Chapter 1: Cancer Diagnosis And Treatment 1

1.1. The Diagnosis of Cancer 1

1.2. Tumor Classification 8

1.3. Cancer Treatment 14

1.4. Risk Factors for Cancer 28

1.5. Case Examples 30

1.6. Discussion Questions 33

1.7. Further Reading 33

Chapter 2: Gastrointestinal Cancer Syndromes 35

2.1. Anatomy 36

2.2. Colorectal Cancer 45

2.3. Gastric (Stomach) Cancer 47

2.4. Pancreatic Cancer 49

2.5. Lynch Syndrome 51

2.6. Familial Adenomatous Polyposis/Attenuated Familial Adenomatous Polyposis 62

2.7. MUTYH-Associated Polyposis 68

2.8. NTHL1 Tumor Syndrome 73

2.9. Polymerase Proofreading-Associated Polyposis Syndrome 75

2.10. Juvenile Polyposis Syndrome 79

2.11. Peutz-Jeghers Syndrome 84

2.12. PTEN Hamartoma Tumor Syndromes 88

2.13. Hereditary Mixed Polyposis Syndrome 90

2.14. Serrated Polyposis Syndrome 92

2.15. Hereditary Diffuse Gastric Cancer Syndrome 96

2.16. Familial Atypical Multiple Mole Melanoma Syndrome 101

2.17. Hereditary Pancreatitis/Familial Pancreatitis 105

2.18. Short Reviews 111

2.19. Further Reading 114

Chapter 3: Breast And Gynecological Cancer Syndromes 129

3.1. Anatomy 129

3.2. Overview of Counseling Issues 131

3.3. Selected Breast and Gynecologic Syndromes 133

3.4. Case Examples 157

3.5. Discussion Questions 160

3.6. Further Reading 160

Chapter 4: Rare Tumor Predisposition Syndromes 163

4.1. Overview of Rare Tumor Syndromes 163

4.2. Overview of Counseling Issues with Rare Tumor Syndromes 171

4.3. Clinical Features of Selected Rare Tumor Syndromes 173

4.4. Case Examples 204

4.5. Discussion Questions 207

4.6. Further Reading 207

Chapter 5: Pediatric Tumor Predisposition Syndromes 209

5.1. Counseling Issues 209

5.2. Pediatric Tumor Predisposition Syndromes 213

5.3. Case Examples 262

5.4. Discussion Questions 265

5.5. Further Reading 266

Chapter 6: Cancer Family Histories (Collection And Interpretation) 269

6.1. Collecting a Cancer History 269

6.2. Challenges to Collecting an Accurate History 289

6.3. Interpreting a Cancer History 293

6.4. Case Examples 299

6.5. Discussion Questions 303

6.6. Further Reading 304

Chapter 7: Cancer Risk Assessment And Risk Models 307

7.1. Risk Definitions 308

7.2. Risk Perception and Cancer Risk 310

7.3. Risk Factors 312

7.4. Risk Modeling 318

7.5. Genetics Criteria 330

7.6. Case Examples 333

7.7. Discussion Questions 334

7.8. Further Reading 335

Chapter 8: Genetic Testing Technologies 337

8.1. Older Technologies 338

8.2. Newer Technologies 348

8.3. Clinical Issues 357

8.4. Case Examples 363

8.5. Discussion Questions 365

8.6. Further Reading 366

Chapter 9: Pre-And Post-Test Genetic Counseling 369

9.1. Traditional Pre-Test Genetic Counseling Session 371

9.2. Pre-Test Strategies for Genetic Counselors 384

9.3. Other Pre-Test Genetic Counseling Considerations 387

9.4. Alternative Service Delivery Models for Pre-Test Education 388

9.5. Traditional Post-Test Genetic Counseling 390

9.6. Post-Test Genetic Counseling When the Genetic Counselor Was Not Involved in Pre-Test Education 396

9.7. Possible Patient Reactions to Results 397

9.8. Follow-Up Genetic Counseling 399

9.9. Psychological Assessment Throughout the Genetic Testing Process (see also Chapter 11) 401

9.10. Summary and Future Directions 403

9.11. Case Examples 404

9.12. Discussion Questions 405

9.13. Further Reading 406

Chapter 10: Special Populations And Special Situations 409

10.1. Counseling for Special Populations 409

10.2. Counseling About Unanticipated Results 417

10.3. Case Examples 421

10.4. Discussion Questions 425

10.5. Further Reading 425

Chapter 11: Psychosocial Aspects Of Cancer Genetic Counseling 429

11.1. Contextual Information About Patients 430

11.2. Patient Reactions Coping Responses and Risk Perception 442

11.3. Strategies for Providing Psychosocial Counseling 446

11.4. Strategies for Effective Psychosocial Genetic Counseling 454

11.5. Providing Additional Emotional Support 461

11.6. Case Examples 468

11.7. Discussion Questions 473

11.8. Further Reading 473

Chapter 12: Ethical Issues In Cancer Genetic Counseling And Testing 475

12.1. Bioethical Principles and Framework 476

12.2. Putting Ethics into Practice 484

12.3. Types of Ethical Dilemmas in Cancer Genetic Counseling 492

12.4. Case Examples 501

12.5. Discussion Questions 504

12.6. Further Reading 504

Index 507

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