Table of Contents 1
Cover
4
Foreword
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
