Counseling about cancer : strategies for genetic counseling
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...
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| Main Authors: | , , |
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| Format: | eBook Book |
| Language: | English |
| Published: |
Hoboken, NJ
Wiley-Blackwell
2023
Wiley John Wiley & Sons, Incorporated |
| Edition: | 4 |
| Subjects: | |
| ISBN: | 9781119466468, 1119466466, 1119466482, 9781119466482 |
| Online Access: | Get full text |
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Table of Contents:
- 4.6. Further Reading -- Chapter 5 Pediatric Tumor Predisposition Syndromes -- 5.1. Counseling Issues -- 5.1.1. There Is Often More Than One "Patient" in the Room -- 5.1.2. The Family Is Often in a State of Acute Crisis -- 5.1.3. Obtaining Assent and Consent for Testing -- 5.1.4. Cases May Be More Complicated Than Adult Cases -- 5.1.5. Issues May Be More Acutely Emotional -- 5.1.6. The Pediatric Oncology Team Is More "Hands On" -- 5.1.7. Complex Counseling Situations Frequently Arise -- 5.1.8. Special Challenges with Potential Bone Marrow Transplant Patients -- 5.2. Pediatric Tumor Predisposition Syndromes -- 5.2.1. Ataxia Telangiectasia -- 5.2.2. Autoimmune Lymphoproliferative Syndrome (Also Canale-Smith Syndrome) -- 5.2.3. Beckwith-Wiedemann Syndrome (Also Beckwith-Wiedemann Spectrum (BWSp) -- Exomphalos Macroglossia Gigantism [EMG] Syndrome) -- 5.2.4. Bloom Syndrome -- 5.2.5. Constitutional Mismatch Repair Deficiency Syndrome -- 5.2.6. Diamond-Blackfan Anemia -- 5.2.7. DICER1 Tumor Predisposition Syndrome (DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome) -- 5.2.8. Dyskeratosis Congenita (Also called Telomere Biology Disorders) -- 5.2.9. Fanconi Anemia -- 5.2.10. Juvenile Polyposis -- 5.2.11. Leukemia Predisposition Syndromes -- 5.2.12. Li-Fraumeni Syndrome -- 5.2.13. Neuroblastoma, Familial -- 5.2.14. Retinoblastoma, Hereditary -- 5.2.15. Rhabdoid Tumor Predisposition Syndrome -- 5.2.16. Rothmund-Thomson Syndrome (also called Poikiloderma congenitale) -- 5.2.17. Shwachman-Diamond Syndrome -- 5.2.18. Tuberous Sclerosis Complex (TSC) -- 5.2.19. WT1-Related Syndrome (Includes Denys-Drash Syndrome, Frasier Syndrome, WAGR Syndrome) -- 5.2.20. Xeroderma Pigmentosum (Includes XP/CS Complex, XP Variant) -- 5.3. Case Examples -- 5.3.1. Case 1: Counseling About an Eye Tumor -- 5.3.2. Case 2: Counseling About a Pulmonary Lesion
- 3.3.7. Lynch Syndrome (see also Section 2.5.2.) -- 3.3.8. Neurofibromatosis (NF1) (see also Section 4.3.9) -- 3.3.9. PALB2 Heterozygous Carriers -- 3.3.10. Peutz-Jeghers Syndrome (PJS) -- 3.3.11. PTEN Hamartoma Tumor Syndrome (PHTS) (Also Cowden Syndrome -- Includes Bannayan-Riley-Ruvalcaba Syndrome and Proteus Syndrome) -- 3.3.12. RAD51C Heterozygous Carriers -- 3.3.13. RAD51D Pathogenic Variant Carriers -- 3.4. Case Examples -- 3.4.1. Case 1 -- 3.4.2. Case 2 -- 3.5. Discussion Questions -- 3.6. Further Reading -- Chapter 4 Rare Tumor Predisposition Syndromes -- 4.1. Overview of Rare Tumor Syndromes -- 4.1.1. The Syndrome Is Defined by Unusual and/or Uncommon Cancers -- 4.1.2. The Presence of a Tumor in the Proband Is Sufficient to Consider the Syndrome -- 4.1.3. Benign Tumors and Nontumor Findings are Often Prominent Features of the Syndrome -- 4.1.4. Bilateral Tumors or Multiple Tumor Primaries Occur More Frequently -- 4.1.5. Most Syndromes Are Autosomal Dominant with Incomplete Penetrance -- 4.2. Overview of Counseling Issues with Rare Tumor Syndromes -- 4.2.1. Documentation of the Exact Tumor Type Is Key -- 4.2.2. Limited Published Data Available About the Syndrome -- 4.2.3. Less Awareness About the Possible Genetic Link and About Testing -- 4.2.4. No One Has Heard of the Syndrome That the Patient Has -- 4.2.5. The Patient's Family May Not Be Interested in Hearing About the Syndrome -- 4.3. Clinical Features of Selected Rare Tumor Syndromes -- 4.3.1. BAP1 Tumor Predisposition Syndrome (includes COMMON syndrome) -- 4.3.2. Birt-Hogg-Dubé Syndrome -- 4.3.3. Familial Atypical Multiple Mole Melanoma Syndrome (includes Nevus Syndrome, and Melanoma-Astrocytoma Syndrome) -- 4.4. Case Examples -- 4.4.1. Case 1: Counseling About Melanoma and Mesothelioma -- 4.4.2. Case 2: Counseling About Small Cell Lung Cancer -- 4.5. Discussion Questions
- 2.15.3. Diagnostic Criteria -- 2.15.4. Cancer Risks -- 2.15.5. Other Clinical Features -- 2.15.6. Syndrome Subtypes -- 2.15.7. Genetic Testing -- 2.15.8. Medical Management -- 2.16. Familial Atypical Multiple Mole Melanoma Syndrome -- 2.16.1. Background -- 2.16.2. Mechanism -- 2.16.3. Diagnostic Criteria -- 2.16.4. Cancer Risks -- 2.16.5. Other Clinical Features -- 2.16.6. Syndrome Subtypes -- 2.16.7. Genetic Testing -- 2.16.8. Medical Management -- 2.17. Hereditary Pancreatitis/Familial Pancreatitis -- 2.17.1. Background -- 2.17.2. Mechanism -- 2.17.3. Diagnostic Criteria -- 2.17.4. Other Clinical Features -- 2.17.5. Cancer Risks -- 2.17.6. Genetic Testing -- 2.17.7. Syndrome Subtypes -- 2.17.8. Medical Management -- 2.18. Short Reviews -- 2.18.1. Li-Fraumeni Syndrome -- 2.18.2. Gastric Adenocarcinoma and Proximal Polyposis of the Stomach -- 2.18.3. Familial Intestinal Gastric Cancer -- 2.18.4. BRCA2-AssociatedGastric Cancer -- 2.18.5. Pancreatic Neuroendocrine Tumor Syndromes -- 2.18.6. Liver (hepato-)/Gallbladder (cholangio-) Cancer Syndromes -- 2.18.7. Esophageal Cancer Syndromes -- 2.18.8. Other Rare Noninherited Gastrointestinal Tract Syndromes -- 2.19. Further Reading -- Chapter 3 Breast and Gynecological Cancer Syndromes -- 3.1. Anatomy -- 3.1.1. The Breast -- 3.1.2. The Gynecological System -- 3.2. Overview of Counseling Issues -- 3.2.1. Clinical Management Issues -- 3.2.2. Timing of Testing -- 3.2.3. Documentation of Exact Tumor Type -- 3.2.4. Syndrome Overlap -- 3.3. Selected Breast and Gynecologic Syndromes -- 3.3.1. ATM Heterozygous Carriers -- 3.3.2. Hereditary Breast and Ovarian Cancer Syndrome (HBOC) -- 3.3.3. BRIP1 Heterozygous Carriers -- 3.3.4. CHEK2 Pathogenic Variant Carriers -- 3.3.5. Hereditary Diffuse Gastric Cancer (HDGC) (see also Section 2.15) -- 3.3.6. Li-Fraumeni Syndrome (LFS) (see also Section 5.2.12)
- 5.4. Discussion Questions
- 2.8. NTHL1 Tumor Syndrome -- 2.8.1. Background -- 2.8.2. Mechanism -- 2.8.3. Diagnostic Criteria -- 2.8.4. Cancer Risks -- 2.8.5. Other Clinical Features -- 2.8.6. Syndrome Subtypes -- 2.8.7. Genetic Testing -- 2.8.8. Medical Management -- 2.9. Polymerase Proofreading-Associated Polyposis Syndrome -- 2.9.1. Background -- 2.9.2. Mechanism -- 2.9.3. Diagnostic Criteria -- 2.9.4. Cancer Risks -- 2.9.5. Other Clinical Features -- 2.9.6. Syndrome Subtypes -- 2.9.7. Genetic Testing -- 2.9.8. Medical Management -- 2.10. Juvenile Polyposis Syndrome -- 2.10.1. Background -- 2.10.2. Mechanism -- 2.10.3. Diagnostic Criteria -- 2.10.4. Cancer Risks -- 2.10.5. Other Clinical Features -- 2.10.6. Syndrome Subtypes -- 2.10.7. Genetic Testing -- 2.10.8. Medical Management -- 2.11. Peutz-Jeghers Syndrome -- 2.11.1. Background -- 2.11.2. Mechanism -- 2.11.4. Cancer Risks -- 2.11.5. Other Clinical Features -- 2.11.6. Syndrome Subtypes -- 2.11.7. Genetic Testing -- 2.11.8. Medical Management -- 2.12. PTEN Hamartoma Tumor Syndromes -- 2.12.1. Background -- 2.12.2. Mechanism -- 2.12.3. Diagnostic Criteria -- 2.12.4. Cancer Risks -- 2.12.5. Other Clinical Features -- 2.12.6. Syndrome Subtypes -- 2.12.7. Genetic Testing -- 2.12.8. Medical Management -- 2.13. Hereditary Mixed Polyposis Syndrome -- 2.13.1. Background -- 2.13.2. Mechanism -- 2.13.3. Diagnostic Criteria -- 2.13.4. Cancer Risks -- 2.13.5. Other Clinical Features -- 2.13.6. Syndrome Subtypes -- 2.13.7. Genetic Testing -- 2.13.8. Medical Management -- 2.14. Serrated Polyposis Syndrome -- 2.14.1. Background -- 2.14.2. Mechanism -- 2.14.3. Diagnostic Criteria -- 2.14.4. Cancer Risks -- 2.14.5. Other Clinical Features -- 2.14.6. Syndrome Subtypes -- 2.14.7. Genetic Testing -- 2.14.8. Medical Management -- 2.15. Hereditary Diffuse Gastric Cancer Syndrome -- 2.15.1. Background -- 2.15.2. Mechanism
- Cover -- Title Page -- Copyright Page -- Contents -- Foreword -- Preface -- Acknowledgments -- Chapter 1 Cancer Diagnosis and Treatment -- 1.1. The Diagnosis of Cancer -- 1.1.1. Cancer Detection -- 1.1.2. Making the Diagnosis of Cancer -- 1.1.3. Cancer Terminology -- 1.1.4. Primary Cancer or Recurrence -- 1.2. Tumor Classification -- 1.2.1. Benign Tumors -- 1.2.2. Tumor Grading -- 1.2.3. Staging -- 1.2.4. Genetic Analysis of the Tumor -- 1.3. Cancer Treatment -- 1.3.1. Surgery -- 1.3.2. Radiation Therapy -- 1.3.3. Chemotherapy -- 1.3.4. Targeted Therapy -- 1.3.5. Stem Cell Transplantation -- 1.3.6. Additional Cancer Therapies -- 1.4. Risk Factors for Cancer -- 1.5. Case Examples -- 1.5.1. Case 1 -- 1.5.2. Case 2 -- 1.6. Discussion Questions -- 1.7. Further Reading -- Chapter 2: Gastrointestinal Cancer Syndromes -- 2.1. Anatomy -- 2.1.1. Mouth and Pharynx (Throat) -- 2.1.2. Esophagus -- 2.1.3. Stomach -- 2.1.4. Small Intestine -- 2.1.5. Pancreas -- 2.1.6. Biliary Tract -- 2.1.7. Colon and Rectum -- 2.2. Colorectal Cancer -- 2.3. Gastric (Stomach) Cancer -- 2.4. Pancreatic Cancer -- 2.5. Lynch Syndrome -- 2.5.1. Background -- 2.5.2. Mechanism -- 2.5.3. Diagnostic Criteria -- 2.5.4. Cancer Risks -- 2.5.5. Other Clinical Features -- 2.5.6. Syndrome Subtypes -- 2.5.7. Genetic Testing -- 2.5.8. Medical Management -- 2.6. Familial Adenomatous Polyposis/Attenuated Familial Adenomatous Polyposis -- 2.6.1. Background -- 2.6.2. Mechanism -- 2.6.3. Diagnostic Criteria -- 2.6.4. Cancer Risks -- 2.6.5. Other Clinical Features -- 2.6.6. Syndrome Subtypes -- 2.6.7. Genetic Testing -- 2.6.8. Medical Management -- 2.7. MUTYH-Associated Polyposis -- 2.7.1. Background -- 2.7.2. Mechanism -- 2.7.3. Diagnostic Criteria -- 2.7.4. Cancer Risks -- 2.7.5. Other Clinical Features -- 2.7.6. Syndrome Subtypes -- 2.7.7. Genetic Testing -- 2.7.8. Medical Management