Constitutional oncogenetics / / Noureddine Boukhatem

• Record Nr.: UNINA9910829935003321
• Autore: Boukhatem Noureddine
• Pubbl/distr/stampa: London, England ; ; Hoboken, New Jersey : , : ISTE Ltd. : , : John Wiley & Sons, Incorporated, , [2021]; ©2021
• ISBN: 1-119-81818-4; 1-119-81810-9
• Descrizione fisica: 1 online resource (283 pages) : illustrations
• Disciplina: 616.994042
• Soggetti: Cancer - Genetic aspects
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Nota di bibliografia: Includes bibliographic references and index.
• Nota di contenuto: Cover -- Half-Title Page -- Dedication -- Title Page -- Copyright Page -- Contents -- Foreword -- Introduction -- PART 1: Major Syndromes -- 1 Hereditary Breast and Ovarian Cancer Syndrome Including Isolated Ovarian Cancers -- 1.1. Introduction -- 1.2. Prevalence -- 1.2.1. Genetic risk assessment criteria1 -- 1.3. Indications for genetic testing -- 1.4. Tumors -- 1.4.1. Breast -- 1.4.2. Ovaries -- 1.5. Genes -- 1.5.1. BRCA1 -- 1.5.2. BRCA2 -- 1.5.3. CHEK2 -- 1.5.4. PALB2 -- 1.5.5. NBN -- 1.5.6. BARD1 -- 1.5.7. BRIP1 -- 1.5.8. RAD51C -- 1.5.9. RAD51D -- 1.6. Genotype-phenotype correlations -- 1.7. Penetrance -- 1.8. Mode of transmission -- 1.9. Risks to family members: special consideration -- 1.10. Monitoring -- 1.10.1. Women -- 1.10.2. Men15 -- 1.10.3. Men and women -- 1.10.4. Risks to relatives -- 1.10.5. Reproductive options -- 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 -- 2.8.1. Amsterdam II criteria -- 2.8.2. Criteria to help identify families with LS -- 2.8.3. Revised Bethesda criteria -- 2.8.4. Spectra and syndromes -- 2.9. Tumors -- 2.9.1. Colorectal cancer -- 2.9.2. Endometrial cancer -- 2.9.3. Bladder and urothelial tract -- 2.9.4. Dermatological tumors -- 2.9.5. Pancreatic tumors -- 2.9.6. Tumors of the ovary -- 2.9.7. Brain tumors -- 2.10. Monitoring -- 2.10.1. ; Colorectal cancer risks -- 2.10.2. GC risks -- 2.10.3. Risks of endometrial and ovarian cancer -- 2.10.4. Risks to the bladder and urothelial tract -- 2.10.5. Risks of dermatological tumors -- 2.10.6. Risks for other types of cancer -- 3 Neurofibromatosis -- 3.1. Introduction -- 3.2. Neurofibromatosis type 1 -- 3.2.1. Introduction -- 3.2.2. Prevalence.; 3.2.3. When to suspect NF1 -- 3.2.4. Tumors -- 3.2.5. Gene -- 3.2.6. Genotype-phenotype correlations -- 3.2.7. Penetrance -- 3.2.8. Mode of transmission -- 3.2.9. Monitoring -- 3.3. Neurofibromatosis type 2 -- 3.3.1. Introduction -- 3.3.2. Prevalence -- 3.3.3. When to suspect NF2 -- 3.3.4. Tumors -- 3.3.5. Gene -- 3.3.6. Genotype-phenotype correlations -- 3.3.7. Penetrance -- 3.3.8. Mode of transmission -- 3.3.9. Risks to family members -- 3.3.10. Monitoring -- 3.4. Schwannomatosis -- 3.4.1. Introduction -- 3.4.2. Prevalence -- 3.4.3. When to suspect schwannomatosis -- 3.4.4. Tumors -- 3.4.5. Genes -- 3.4.6. Genotype-phenotype correlations -- 3.4.7. Penetrance -- 3.4.8. Mode of transmission -- 3.4.9. Monitoring -- 4 Fammilial Adenomatous Polyposis -- 4.1. Intoduction -- 4.1.1. FAP -- 4.1.2. AFAP -- 4.1.3. MAP -- 4.1.4. NAP -- 4.1.5. PPAP -- 4.2. Prevalence -- 4.2.1. FAP -- 4.2.2. MAP -- 4.2.3. NAP -- 4.2.4. PPAP -- 4.3. When to suspect FAP -- 4.4. Tumors -- 4.4.1. FAP -- 4.4.2. MAP -- 4.4.3. NAP -- 4.4.4. PPAP -- 4.5. Genes -- 4.5.1. APC -- 4.5.2. MUTYH -- 4.5.3. NTHL1 -- 4.5.4. POLE and POLD1 -- 4.6. Genotype-phenotype correlations -- 4.6.1. FAP -- 4.6.2. MAP -- 4.6.3. PPAP -- 4.7. Penetrance -- 4.7.1. FAP -- 4.7.2. MAP -- 4.7.3. PPAP -- 4.8. Mode of transmission -- 4.9. Monitoring -- 4.9.1. FAP -- 4.9.2. Monitoring of extracolonic cancer -- 4.9.3. MAP -- 4.9.4. NAP -- 4.9.5. PPAP -- 5 Endocrine Neoplasia -- 5.1. Introduction -- 5.1.1. MEN1 -- 5.1.2. MEN2 -- 5.1.3. MEN4 -- 5.1.4. HPT-JT -- 5.2. Prevalence -- 5.3. When to suspect endocrine neoplasia -- 5.4. Tumors -- 5.4.1. MEN1 -- 5.4.2. MEN2 -- 5.4.3. MEN4 -- 5.4.4. HPT-JT -- 5.5. Genes -- 5.5.1. MEN1 -- 5.5.2. RET -- 5.5.3. CDKN1B -- 5.5.4. CDC73 -- 5.6. Genotype-phenotype correlations -- 5.6.1. MEN1 -- 5.6.2. MEN2 -- 5.6.3. MEN4 -- 5.6.4. HPT-JT -- 5.7. Penetrance -- 5.7.1. MEN1 -- 5.7.2. MEN2.; 5.7.3. MEN4 -- 5.7.4. HPT-JT -- 5.8. Mode of transmission -- 5.9. Monitoring -- 5.9.1. MEN1 -- 5.9.2. MEN2 -- 5.9.3. MEN4 -- 5.9.4. HPT-JT -- 6 Hereditary Paraganglioma- pheochromocytoma -- 6.1. Introduction -- 6.2. Prevalence -- 6.3. When to suspect a PCC/PGL -- 6.3.1. Pheochromocytomas -- 6.3.2. Paragangliomas -- 6.3.3. Paragangliomas of the head and neck -- 6.3.4. Sympathetic paragangliomas -- 6.4. Tumors -- 6.5. Genes -- 6.5.1. SDHx, SDHAF2 and EPAS1 -- 6.5.2. TMEM127 and MAX -- 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 -- 9.4.1. CDKN2A -- 9.4.2. BAP1 -- 9.4.3. MITF -- 9.4.4. POT1 -- 9.5. Genes -- 9.5.1. CDKN2A -- 9.5.2. MITF -- 9.5.3. POT1 -- 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 -- 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 -- 13.3.1. FIHPT -- 13.3.2. FHH -- 13.3.3. NSHPT -- 13.4. Genetics -- 13.4.1. FIHPT -- 13.4.2. FHH -- 13.4.3. NSHPT -- 13.5. Monitoring -- 14 Hamartomatous Polyposis Syndromes -- 14.1. PTEN-hamartoma tumor syndromes -- 14.1.1. Introduction -- 14.1.2. Gene -- 14.1.3. Tumors -- 14.1.4. Genetics -- 14.1.5. Monitoring -- 14.2. Juvenile polyposis syndrome -- 14.2.1. Introduction -- 14.2.2. Gene -- 14.2.3. Tumors -- 14.2.4. Genetics -- 14.2.5. Monitoring -- 14.3. Peutz-Jeghers syndrome -- 14.3.1. Introduction -- 14.3.2. Gene -- 14.3.3. Tumors -- 14.3.4. Genetics -- 14.3.5. Monitoring -- 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 -- 19.2.1. MET -- 19.2.2. FH -- 19.3. Tumors -- 19.3.1. HPRC -- 19.3.2. HLRCC -- 19.4. Genetics -- 19.4.1. HPRC type 1 -- 19.4.2. HLRCC -- 19.5. Monitoring -- 19.5.1. HPRC -- 19.5.2. HLRCC -- 20 Retinoblastoma -- 20.1. Introduction -- 20.2. Gene -- 20.3. Tumors -- 20.4. Genetics -- 20.5. Monitoring -- 20.5.1. Monitoring for intraocular RB -- 20.5.2. Monitoring for trilateral RB -- 20.5.3. Monitoring of second primary tumors -- 21 Carney Complex -- 21.1. Introduction -- 21.2. Gene -- 21.3. Tumors -- 21.4. Genetics -- 21.5. Monitoring -- 21.5.1. Screening of prepubescent children.; 21.5.2. Annual screening of children and postpubescent adults -- 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 -- Appendix: Summary of the Book -- References -- Index -- EULA.