Читать книгу Constitutional Oncogenetics - Noureddine Boukhatem - Страница 2

1  Cover

2  Title Page

3  Copyright

4  Foreword

5  Introduction

6  PART 1: Major Syndromes 1 Hereditary Breast and Ovarian Cancer Syndrome Including Isolated Ovarian Cancers 1.1. Introduction 1.2. Prevalence 1.3. Indications for genetic testing 1.4. Tumors 1.5. Genes 1.6. Genotype–phenotype correlations 1.7. Penetrance 1.8. Mode of transmission 1.9. Risks to family members: special consideration 1.10. Monitoring 2 Lynch Syndrome 2.1. Introduction 2.2. Prevalence 2.3. Genes 2.4. Genotype–phenotype correlations 2.5. Penetrance and survival 2.6. Long-term prevalence of cancer in LS patients 2.7. Mode of transmission 2.8. When to suspect LS 2.9. Tumors 2.10. Monitoring 3 Neurofibromatosis 3.1. Introduction 3.2. Neurofibromatosis type 1 3.3. Neurofibromatosis type 2 3.4. Schwannomatosis 4 Familial Adenomatous Polyposis 4.1. Introduction 4.2. Prevalence 4.3. When to suspect FAP 4.4. Tumors 4.5. Genes 4.6. Genotype–phenotype correlations 4.7. Penetrance 4.8. Mode of transmission 4.9. Monitoring 5 Endocrine Neoplasia 5.1. Introduction 5.2. Prevalence 5.3. When to suspect endocrine neoplasia 5.4. Tumors 5.5. Genes 5.6. Genotype–phenotype correlations 5.7. Penetrance 5.8. Mode of transmission 5.9. Monitoring 6 Hereditary Paraganglioma– pheochromocytoma 6.1. Introduction 6.2. Prevalence 6.3. When to suspect a PCC/PGL 6.4. Tumors 6.5. Genes 6.6. Genotype–phenotype correlations 6.7. Penetrance 6.8. Mode of transmission 6.9. Monitoring 7 Birt–Hogg–Dubé Syndrome 7.1. Introduction 7.2. Prevalence 7.3. When to suspect BHD syndrome 7.4. Tumors 7.5. Gene 7.6. Genotype–phenotype correlations 7.7. Penetrance 7.8. Mode of transmission 7.9. Monitoring 8 RASopathies 8.1. Introduction 8.2. Prevalence 8.3. When to suspect RASopathies 8.4. Tumors 8.5. Genes 8.6. Genotype–phenotype correlations 8.7. Penetrance 8.8. Mode of transmission 8.9. Monitoring 9 Familial Malignant Melanoma 9.1. Introduction 9.2. Prevalence 9.3. When to suspect familial malignant melanoma 9.4. Tumors 9.5. Genes 9.6. Genotype–phenotype correlations 9.7. Penetrance 9.8. Mode of transmission 9.9. Monitoring 10 Gorlin Syndrome 10.1. Introduction 10.2. Prevalence 10.3. When to suspect GS 10.4. Tumors 10.5. Genes 10.6. Genotype–phenotype correlations 10.7. Penetrance 10.8. Mode of transmission 10.9. Monitoring

7  PART 2: Infracentesimal Syndromes 11 Li—Fraumeni Syndrome 11.1. Introduction 11.2. Gene 11.3. Tumors 11.4. Genetics 11.5. Monitoring 12 Ataxia–telangiectasia 12.1. Introduction 12.2. Gene 12.3. Tumors 12.4 Genetics 12.5. Monitoring 13 Hyperparathyroidism 13.1. Introduction 13.2. Gene 13.3. Tumors 13.4. Genetics 13.5. Monitoring 14 Hamartomatous Polyposis Syndromes 14.1. PTEN-hamartoma tumor syndromes 14.2. Juvenile polyposis syndrome 14.3. Peutz–Jeghers syndrome 15 Fanconi Syndrome 15.1. Introduction 15.2. Gene 15.3. Tumors 15.4. Genetics 15.5. Monitoring 16 Hereditary Diffuse Gastric Cancer 16.1. Introduction 16.2. Gene 16.3. Tumors 16.4. Genetics 16.5. Monitoring 17 Von Hippel–Lindau Disease 17.1. Introduction 17.2. Gene 17.3. Tumors 17.4. Genetics 17.5. Monitoring 18 Xeroderma Pigmentosum 18.1. Introduction 18.2. Gene 18.3. Tumors 18.4. Genetics 18.5. Monitoring 19 Hereditary Papillary Renal Carcinoma 19.1. Introduction 19.2. Gene 19.3. Tumors 19.4. Genetics 19.5. Monitoring 20 Retinoblastoma 20.1. Introduction 20.2. Gene 20.3. Tumors 20.4. Genetics 20.5. Monitoring 21 Carney Complex 21.1. Introduction 21.2. Gene 21.3. Tumors 21.4. Genetics 21.5. Monitoring 22 Hematological Malignancies 22.1. Introduction 22.2. Gene 22.3. Tumors 22.4. Genetics 22.5. Monitoring 23 Familial Pituitary Adenomas 23.1. Introduction 23.2. Gene 23.3. Tumors 23.4. Genetics 23.5. Monitoring 24 Bloom Syndrome 24.1. Introduction 24.2. Gene 24.3. Tumors 24.4. Genetics 24.5. Monitoring 25 Werner Syndrome 25.1. Introduction 25.2. Gene 25.3. Tumors 25.4. Genetics 25.5. Monitoring

8  Appendix: Summary of the Book

9  References Birt–Hogg–Dubé syndrome Breast-ovarian cancer syndrome Endocrine neoplasia Familial adenomatous polyposis Familial malignant melanoma Gorlin syndrome Hereditary pheochromocytoma and paraganglioma Infracentesimal syndromes Lynch syndrome Neurofibromatosis RASopathies

10  Index

11  End User License Agreement