John Wiley & Sons Constitutional Oncogenetics Cover In the age of genomics, oncogenetics is a growing discipline. It is defined as the identification an.. Product #: 978-1-78945-016-3 Regular price: $142.06 $142.06 In Stock

Constitutional Oncogenetics

Boukhatem, Noureddine

Cover

1. Edition April 2021
288 Pages, Hardcover
Wiley & Sons Ltd

ISBN: 978-1-78945-016-3
John Wiley & Sons

Buy now

Price: 152,00 €

Price incl. VAT, excl. Shipping

Further versions

epubmobipdf

In the age of genomics, oncogenetics is a growing discipline. It is defined as the identification and management of families where there is a suspected hereditary risk of cancer. This relatively new discipline is part of a modern medicine that aims to be both preventive and predictive.

Constitutional Oncogenetics gives precise descriptions of the main syndromes that cause a predisposition for cancer. The first part examines the most common syndromes in the majority of the world, including the heightened hereditary risk of breast and ovarian cancer and Lynch syndrome. The second part introduces less common infracentesimal syndromes, such as Bloom syndrome and Fanconi syndrome. This book is intended for oncogenetic practitioners and other specialists, as well as medical students.

Foreword xvii

Introduction xix

Part 1. Major Syndromes 1

Chapter 1. Hereditary Breast and Ovarian Cancer Syndrome Including Isolated Ovarian Cancers 3

1.1. Introduction 3

1.2. Prevalence 4

1.2.1. Genetic risk assessment criteria 5

1.3. Indications for genetic testing 8

1.4. Tumors 8

1.4.1. Breast 8

1.4.2. Ovaries 10

1.5. Genes 12

1.5.1. BRCA1 12

1.5.2. BRCA2 12

1.5.3. CHEK2 12

1.5.4. PALB2 13

1.5.5. NBN 13

1.5.6. BARD1 13

1.5.7. BRIP1 13

1.5.8. RAD51C 14

1.5.9. RAD51D 14

1.6. Genotype-phenotype correlations 14

1.7. Penetrance 15

1.8. Mode of transmission 17

1.9. Risks to family members: special consideration 17

1.10. Monitoring 18

1.10.1. Women 18

1.10.2. Men 20

1.10.3. Men and women 20

1.10.4. Risks to relatives 20

1.10.5. Reproductive options 21

Chapter 2. Lynch Syndrome 25

2.1. Introduction 25

2.2. Prevalence 27

2.3. Genes 28

2.4. Genotype-phenotype correlations 28

2.5. Penetrance and survival 29

2.6. Long-term prevalence of cancer in LS patients 30

2.7. Mode of transmission 33

2.8. When to suspect LS 33

2.8.1. Amsterdam II criteria 33

2.8.2. Criteria to help identify families with LS 33

2.8.3. Revised Bethesda criteria 34

2.8.4. Spectra and syndromes 34

2.9. Tumors 35

2.9.1. Colorectal cancer 35

2.9.2. Endometrial cancer 36

2.9.3. Bladder and urothelial tract 36

2.9.4. Dermatological tumors 37

2.9.5. Pancreatic tumors 38

2.9.6. Tumors of the ovary 38

2.9.7. Brain tumors 38

2.10. Monitoring 39

2.10.1. Colorectal cancer risks 39

2.10.2. GC risks 40

2.10.3. Risks of endometrial and ovarian cancer 40

2.10.4. Risks to the bladder and urothelial tract 41

2.10.5. Risks of dermatological tumors 42

2.10.6. Risks for other types of cancer 42

Chapter 3. Neurofibromatosis 43

3.1. Introduction 43

3.2. Neurofibromatosis type 1 43

3.2.1. Introduction 43

3.2.2. Prevalence 43

3.2.3. When to suspect NF1 44

3.2.4. Tumors 44

3.2.5. Gene 45

3.2.6. Genotype-phenotype correlations 46

3.2.7. Penetrance 46

3.2.8. Mode of transmission 47

3.2.9. Monitoring 48

3.3. Neurofibromatosis type 2 49

3.3.1. Introduction 49

3.3.2. Prevalence 51

3.3.3. When to suspect NF2 51

3.3.4. Tumors 51

3.3.5. Gene 52

3.3.6. Genotype-phenotype correlations 52

3.3.7. Penetrance 53

3.3.8. Mode of transmission 53

3.3.9. Risks to family members 53

3.3.10. Monitoring 54

3.4. Schwannomatosis 55

3.4.1. Introduction 55

3.4.2. Prevalence 55

3.4.3. When to suspect schwannomatosis 55

3.4.4. Tumors 55

3.4.5. Genes 56

3.4.6. Genotype-phenotype correlations 57

3.4.7. Penetrance 57

3.4.8. Mode of transmission 57

3.4.9. Monitoring 58

Chapter 4. Familial Adenomatous Polyposis 59

4.1. Introduction 59

4.1.1. FAP 59

4.1.2. AFAP 60

4.1.3. MAP 60

4.1.4. NAP 60

4.1.5. PPAP 60

4.2. Prevalence 61

4.2.1. FAP 61

4.2.2. MAP 61

4.2.3. NAP 62

4.2.4. PPAP 62

4.3. When to suspect FAP 63

4.4. Tumors 63

4.4.1. FAP 63

4.4.2. MAP 64

4.4.3. NAP 65

4.4.4. PPAP 65

4.5. Genes 65

4.5.1. APC 65

4.5.2. MUTYH 66

4.5.3. NTHL1 66

4.5.4. POLE and POLD1 66

4.6. Genotype-phenotype correlations 67

4.6.1. FAP 67

4.6.2. MAP 67

4.6.3. PPAP 68

4.7. Penetrance 68

4.7.1. FAP 68

4.7.2. MAP 68

4.7.3. PPAP 68

4.8. Mode of transmission 68

4.9. Monitoring 68

4.9.1. FAP 68

4.9.2. Monitoring of extracolonic cancer 69

4.9.3. MAP 70

4.9.4. NAP 70

4.9.5. PPAP 70

Chapter 5. Endocrine Neoplasia 73

5.1. Introduction 73

5.1.1. MEN1 73

5.1.2. MEN2 73

5.1.3. MEN4 74

5.1.4. HPT-JT 74

5.2. Prevalence 75

5.3. When to suspect endocrine neoplasia 75

5.4. Tumors 76

5.4.1. MEN1 76

5.4.2. MEN2 77

5.4.3. MEN4 77

5.4.4. HPT-JT 78

5.5. Genes 78

5.5.1. MEN1 78

5.5.2. RET 78

5.5.3. CDKN1B 79

5.5.4. CDC73 79

5.6. Genotype-phenotype correlations 79

5.6.1. MEN1 79

5.6.2. MEN2 79

5.6.3. MEN4 80

5.6.4. HPT-JT 80

5.7. Penetrance 80

5.7.1. MEN1 80

5.7.2. MEN2 81

5.7.3. MEN4 81

5.7.4. HPT-JT 81

5.8. Mode of transmission 81

5.9. Monitoring 82

5.9.1. MEN1 82

5.9.2. MEN2 83

5.9.3. MEN4 85

5.9.4. HPT-JT 85

Chapter 6. Hereditary Paraganglioma-pheochromocytoma 87

6.1. Introduction 87

6.2. Prevalence 88

6.3. When to suspect a PCC/PGL 88

6.3.1. Pheochromocytomas 88

6.3.2. Paragangliomas 89

6.3.3. Paragangliomas of the head and neck 89

6.3.4. Sympathetic paragangliomas 90

6.4. Tumors 90

6.5. Genes 92

6.5.1. SDHx, SDHAF2 and EPAS1 92

6.5.2. TMEM127 and MAX 93

6.6. Genotype-phenotype correlations 93

6.7. Penetrance 93

6.8. Mode of transmission 95

6.9. Monitoring 95

Chapter 7. Birt-Hogg-Dubé Syndrome 99

7.1. Introduction 99

7.2. Prevalence 99

7.3. When to suspect BHD syndrome 99

7.4. Tumors 100

7.5. Gene 101

7.6. Genotype-phenotype correlations 102

7.7. Penetrance 102

7.8. Mode of transmission 102

7.9. Monitoring 102

Chapter 8. RASopathies 105

8.1. Introduction 105

8.2. Prevalence 105

8.3. When to suspect RASopathies 105

8.4. Tumors 107

8.5. Genes 107

8.6. Genotype-phenotype correlations 108

8.7. Penetrance 108

8.8. Mode of transmission 108

8.9. Monitoring 109

Chapter 9. Familial Malignant Melanoma 111

9.1. Introduction 111

9.2. Prevalence 113

9.3. When to suspect familial malignant melanoma 113

9.4. Tumors 115

9.4.1. CDKN2A 115

9.4.2. BAP1 116

9.4.3. MITF 116

9.4.4. POT1 116

9.5. Genes 116

9.5.1. CDKN2A 116

9.5.2. MITF 117

9.5.3. POT1 117

9.6. Genotype-phenotype correlations 117

9.7. Penetrance 117

9.8. Mode of transmission 118

9.9. Monitoring 118

Chapter 10. Gorlin Syndrome 121

10.1. Introduction 121

10.2. Prevalence 121

10.3. When to suspect GS 121

10.4. Tumors 122

10.5. Genes 123

10.6. Genotype-phenotype correlations 123

10.7. Penetrance 124

10.8. Mode of transmission 124

10.9. Monitoring 124

Part 2. Infracentesimal Syndromes 125

Chapter 11. Li-Fraumeni Syndrome 127

11.1. Introduction 127

11.2. Gene 128

11.3. Tumors 128

11.4. Genetics 129

11.5. Monitoring 130

Chapter 12. Ataxia-telangiectasia 131

12.1. Introduction 131

12.2. Gene 131

12.3. Tumors 132

12.4 Genetics 132

12.5. Monitoring 132

Chapter 13. Hyperparathyroidism 135

13.1. Introduction 135

13.2. Gene 136

13.3. Tumors 136

13.3.1. FIHPT 136

13.3.2. FHH 136

13.3.3. NSHPT 137

13.4. Genetics 137

13.4.1. FIHPT 137

13.4.2. FHH 137

13.4.3. NSHPT 137

13.5. Monitoring 137

Chapter 14. Hamartomatous Polyposis Syndromes 139

14.1. PTEN-hamartoma tumor syndromes 139

14.1.1. Introduction 139

14.1.2. Gene 140

14.1.3. Tumors 140

14.1.4. Genetics 140

14.1.5. Monitoring 141

14.2. Juvenile polyposis syndrome 141

14.2.1. Introduction 141

14.2.2. Gene 142

14.2.3. Tumors 142

14.2.4. Genetics 142

14.2.5. Monitoring 143

14.3. Peutz-Jeghers syndrome 143

14.3.1. Introduction 143

14.3.2. Gene 143

14.3.3. Tumors 144

14.3.4. Genetics 144

14.3.5. Monitoring 145

Chapter 15. Fanconi Syndrome 147

15.1. Introduction 147

15.2. Gene 148

15.3. Tumors 148

15.4. Genetics 148

15.5. Monitoring 149

Chapter 16. Hereditary Diffuse Gastric Cancer 151

16.1. Introduction 151

16.2. Gene 151

16.3. Tumors 152

16.4. Genetics 152

16.5. Monitoring 152

Chapter 17. Von Hippel-Lindau Disease 155

17.1. Introduction 155

17.2. Gene 156

17.3. Tumors 156

17.4. Genetics 158

17.5. Monitoring 158

Chapter 18. Xeroderma Pigmentosum 161

18.1. Introduction 161

18.2. Gene 161

18.3. Tumors 162

18.4. Genetics 162

18.5. Monitoring 162

Chapter 19. Hereditary Papillary Renal Carcinoma 165

19.1. Introduction 165

19.2. Gene 165

19.2.1. MET 165

19.2.2. FH 166

19.3. Tumors 166

19.3.1. HPRC 166

19.3.2. HLRCC 166

19.4. Genetics 167

19.4.1. HPRC type 1 167

19.4.2. HLRCC 168

19.5. Monitoring 168

19.5.1. HPRC 168

19.5.2. HLRCC 168

Chapter 20. Retinoblastoma 171

20.1. Introduction 171

20.2. Gene 171

20.3. Tumors 171

20.4. Genetics 172

20.5. Monitoring 173

20.5.1. Monitoring for intraocular RB 173

20.5.2. Monitoring for trilateral RB 173

20.5.3. Monitoring of second primary tumors 173

Chapter 21. Carney Complex 175

21.1. Introduction 175

21.2. Gene 175

21.3. Tumors 176

21.4. Genetics 176

21.5. Monitoring 177

21.5.1. Screening of prepubescent children 177

21.5.2. Annual screening of children and postpubescent adults 178

Chapter 22. Hematological Malignancies 179

22.1. Introduction 179

22.2. Gene 180

22.3. Tumors 181

22.4. Genetics 182

22.5. Monitoring 182

Chapter 23. Familial Pituitary Adenomas 185

23.1. Introduction 185

23.2. Gene 186

23.3. Tumors 186

23.4. Genetics 187

23.5. Monitoring 187

Chapter 24. Bloom Syndrome 191

24.1. Introduction 191

24.2. Gene 191

24.3. Tumors 192

24.4. Genetics 192

24.5. Monitoring 193

Chapter 25. Werner Syndrome 195

25.1. Introduction 195

25.2. Gene 195

25.3. Tumors 196

25.4. Genetics 196

25.5. Monitoring 197

Appendix: Summary of the Book 199

References 221

Index 245
Noureddine Boukhatem is a professor at Mohamed I University, in Morocco, where he leads the Genetics and Immune Therapy team. He has also worked on the oncogenetic services of the Curie and Gustave Roussy Institute and the Jean Perrin Centre, in France.