Constitutional Oncogenetics

ISBN-13: 9781789450163 / Angielski / Twarda / 2021 / 288 str.

Noureddine Boukhatem

Spis treści

Foreword xviiIntroduction xixPart 1. Major Syndromes 1Chapter 1. Hereditary Breast and Ovarian Cancer Syndrome Including Isolated Ovarian Cancers 31.1. Introduction 31.2. Prevalence 41.2.1. Genetic risk assessment criteria 51.3. Indications for genetic testing 81.4. Tumors 81.4.1. Breast 81.4.2. Ovaries 101.5. Genes 121.5.1. BRCA1 121.5.2. BRCA2 121.5.3. CHEK2 121.5.4. PALB2 131.5.5. NBN 131.5.6. BARD1 131.5.7. BRIP1 131.5.8. RAD51C 141.5.9. RAD51D 141.6. Genotype-phenotype correlations 141.7. Penetrance 151.8. Mode of transmission 171.9. Risks to family members: special consideration 171.10. Monitoring 181.10.1. Women 181.10.2. Men 201.10.3. Men and women 201.10.4. Risks to relatives 201.10.5. Reproductive options 21Chapter 2. Lynch Syndrome 252.1. Introduction 252.2. Prevalence 272.3. Genes 282.4. Genotype-phenotype correlations 282.5. Penetrance and survival 292.6. Long-term prevalence of cancer in LS patients 302.7. Mode of transmission 332.8. When to suspect LS 332.8.1. Amsterdam II criteria 332.8.2. Criteria to help identify families with LS 332.8.3. Revised Bethesda criteria 342.8.4. Spectra and syndromes 342.9. Tumors 352.9.1. Colorectal cancer 352.9.2. Endometrial cancer 362.9.3. Bladder and urothelial tract 362.9.4. Dermatological tumors 372.9.5. Pancreatic tumors 382.9.6. Tumors of the ovary 382.9.7. Brain tumors 382.10. Monitoring 392.10.1. Colorectal cancer risks 392.10.2. GC risks 402.10.3. Risks of endometrial and ovarian cancer 402.10.4. Risks to the bladder and urothelial tract 412.10.5. Risks of dermatological tumors 422.10.6. Risks for other types of cancer 42Chapter 3. Neurofibromatosis 433.1. Introduction 433.2. Neurofibromatosis type 1 433.2.1. Introduction 433.2.2. Prevalence 433.2.3. When to suspect NF1 443.2.4. Tumors 443.2.5. Gene 453.2.6. Genotype-phenotype correlations 463.2.7. Penetrance 463.2.8. Mode of transmission 473.2.9. Monitoring 483.3. Neurofibromatosis type 2 493.3.1. Introduction 493.3.2. Prevalence 513.3.3. When to suspect NF2 513.3.4. Tumors 513.3.5. Gene 523.3.6. Genotype-phenotype correlations 523.3.7. Penetrance 533.3.8. Mode of transmission 533.3.9. Risks to family members 533.3.10. Monitoring 543.4. Schwannomatosis 553.4.1. Introduction 553.4.2. Prevalence 553.4.3. When to suspect schwannomatosis 553.4.4. Tumors 553.4.5. Genes 563.4.6. Genotype-phenotype correlations 573.4.7. Penetrance 573.4.8. Mode of transmission 573.4.9. Monitoring 58Chapter 4. Familial Adenomatous Polyposis 594.1. Introduction 594.1.1. FAP 594.1.2. AFAP 604.1.3. MAP 604.1.4. NAP 604.1.5. PPAP 604.2. Prevalence 614.2.1. FAP 614.2.2. MAP 614.2.3. NAP 624.2.4. PPAP 624.3. When to suspect FAP 634.4. Tumors 634.4.1. FAP 634.4.2. MAP 644.4.3. NAP 654.4.4. PPAP 654.5. Genes 654.5.1. APC 654.5.2. MUTYH 664.5.3. NTHL1 664.5.4. POLE and POLD1 664.6. Genotype-phenotype correlations 674.6.1. FAP 674.6.2. MAP 674.6.3. PPAP 684.7. Penetrance 684.7.1. FAP 684.7.2. MAP 684.7.3. PPAP 684.8. Mode of transmission 684.9. Monitoring 684.9.1. FAP 684.9.2. Monitoring of extracolonic cancer 694.9.3. MAP 704.9.4. NAP 704.9.5. PPAP 70Chapter 5. Endocrine Neoplasia 735.1. Introduction 735.1.1. MEN1 735.1.2. MEN2 735.1.3. MEN4 745.1.4. HPT-JT 745.2. Prevalence 755.3. When to suspect endocrine neoplasia 755.4. Tumors 765.4.1. MEN1 765.4.2. MEN2 775.4.3. MEN4 775.4.4. HPT-JT 785.5. Genes 785.5.1. MEN1 785.5.2. RET 785.5.3. CDKN1B 795.5.4. CDC73 795.6. Genotype-phenotype correlations 795.6.1. MEN1 795.6.2. MEN2 795.6.3. MEN4 805.6.4. HPT-JT 805.7. Penetrance 805.7.1. MEN1 805.7.2. MEN2 815.7.3. MEN4 815.7.4. HPT-JT 815.8. Mode of transmission 815.9. Monitoring 825.9.1. MEN1 825.9.2. MEN2 835.9.3. MEN4 855.9.4. HPT-JT 85Chapter 6. Hereditary Paraganglioma-pheochromocytoma 876.1. Introduction 876.2. Prevalence 886.3. When to suspect a PCC/PGL 886.3.1. Pheochromocytomas 886.3.2. Paragangliomas 896.3.3. Paragangliomas of the head and neck 896.3.4. Sympathetic paragangliomas 906.4. Tumors 906.5. Genes 926.5.1. SDHx, SDHAF2 and EPAS1 926.5.2. TMEM127 and MAX 936.6. Genotype-phenotype correlations 936.7. Penetrance 936.8. Mode of transmission 956.9. Monitoring 95Chapter 7. Birt-Hogg-Dubé Syndrome 997.1. Introduction 997.2. Prevalence 997.3. When to suspect BHD syndrome 997.4. Tumors 1007.5. Gene 1017.6. Genotype-phenotype correlations 1027.7. Penetrance 1027.8. Mode of transmission 1027.9. Monitoring 102Chapter 8. RASopathies 1058.1. Introduction 1058.2. Prevalence 1058.3. When to suspect RASopathies 1058.4. Tumors 1078.5. Genes 1078.6. Genotype-phenotype correlations 1088.7. Penetrance 1088.8. Mode of transmission 1088.9. Monitoring 109Chapter 9. Familial Malignant Melanoma 1119.1. Introduction 1119.2. Prevalence 1139.3. When to suspect familial malignant melanoma 1139.4. Tumors 1159.4.1. CDKN2A 1159.4.2. BAP1 1169.4.3. MITF 1169.4.4. POT1 1169.5. Genes 1169.5.1. CDKN2A 1169.5.2. MITF 1179.5.3. POT1 1179.6. Genotype-phenotype correlations 1179.7. Penetrance 1179.8. Mode of transmission 1189.9. Monitoring 118Chapter 10. Gorlin Syndrome 12110.1. Introduction 12110.2. Prevalence 12110.3. When to suspect GS 12110.4. Tumors 12210.5. Genes 12310.6. Genotype-phenotype correlations 12310.7. Penetrance 12410.8. Mode of transmission 12410.9. Monitoring 124Part 2. Infracentesimal Syndromes 125Chapter 11. Li-Fraumeni Syndrome 12711.1. Introduction 12711.2. Gene 12811.3. Tumors 12811.4. Genetics 12911.5. Monitoring 130Chapter 12. Ataxia-telangiectasia 13112.1. Introduction 13112.2. Gene 13112.3. Tumors 13212.4 Genetics 13212.5. Monitoring 132Chapter 13. Hyperparathyroidism 13513.1. Introduction 13513.2. Gene 13613.3. Tumors 13613.3.1. FIHPT 13613.3.2. FHH 13613.3.3. NSHPT 13713.4. Genetics 13713.4.1. FIHPT 13713.4.2. FHH 13713.4.3. NSHPT 13713.5. Monitoring 137Chapter 14. Hamartomatous Polyposis Syndromes 13914.1. PTEN-hamartoma tumor syndromes 13914.1.1. Introduction 13914.1.2. Gene 14014.1.3. Tumors 14014.1.4. Genetics 14014.1.5. Monitoring 14114.2. Juvenile polyposis syndrome 14114.2.1. Introduction 14114.2.2. Gene 14214.2.3. Tumors 14214.2.4. Genetics 14214.2.5. Monitoring 14314.3. Peutz-Jeghers syndrome 14314.3.1. Introduction 14314.3.2. Gene 14314.3.3. Tumors 14414.3.4. Genetics 14414.3.5. Monitoring 145Chapter 15. Fanconi Syndrome 14715.1. Introduction 14715.2. Gene 14815.3. Tumors 14815.4. Genetics 14815.5. Monitoring 149Chapter 16. Hereditary Diffuse Gastric Cancer 15116.1. Introduction 15116.2. Gene 15116.3. Tumors 15216.4. Genetics 15216.5. Monitoring 152Chapter 17. Von Hippel-Lindau Disease 15517.1. Introduction 15517.2. Gene 15617.3. Tumors 15617.4. Genetics 15817.5. Monitoring 158Chapter 18. Xeroderma Pigmentosum 16118.1. Introduction 16118.2. Gene 16118.3. Tumors 16218.4. Genetics 16218.5. Monitoring 162Chapter 19. Hereditary Papillary Renal Carcinoma 16519.1. Introduction 16519.2. Gene 16519.2.1. MET 16519.2.2. FH 16619.3. Tumors 16619.3.1. HPRC 16619.3.2. HLRCC 16619.4. Genetics 16719.4.1. HPRC type 1 16719.4.2. HLRCC 16819.5. Monitoring 16819.5.1. HPRC 16819.5.2. HLRCC 168Chapter 20. Retinoblastoma 17120.1. Introduction 17120.2. Gene 17120.3. Tumors 17120.4. Genetics 17220.5. Monitoring 17320.5.1. Monitoring for intraocular RB 17320.5.2. Monitoring for trilateral RB 17320.5.3. Monitoring of second primary tumors 173Chapter 21. Carney Complex 17521.1. Introduction 17521.2. Gene 17521.3. Tumors 17621.4. Genetics 17621.5. Monitoring 17721.5.1. Screening of prepubescent children 17721.5.2. Annual screening of children and postpubescent adults 178Chapter 22. Hematological Malignancies 17922.1. Introduction 17922.2. Gene 18022.3. Tumors 18122.4. Genetics 18222.5. Monitoring 182Chapter 23. Familial Pituitary Adenomas 18523.1. Introduction 18523.2. Gene 18623.3. Tumors 18623.4. Genetics 18723.5. Monitoring 187Chapter 24. Bloom Syndrome 19124.1. Introduction 19124.2. Gene 19124.3. Tumors 19224.4. Genetics 19224.5. Monitoring 193Chapter 25. Werner Syndrome 19525.1. Introduction 19525.2. Gene 19525.3. Tumors 19625.4. Genetics 19625.5. Monitoring 197Appendix: Summary of the Book 199References 221Index 245

O autorze

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.