Concise handbook of familial cancer susceptibility syndromes - second edition.

1. Ataxia Telangiectasia (includes Ataxia Telangiectasia 12 Complementation Groups A, C, D, E, Louis–Barr Syndrome) 2. Basal Cell Nevus Syndrome, Nevoid Basal Cell 18 Carcinoma Syndrome, or Gorlin Syndrome 3. Beckwith–Wiedemann Syndrome 19 (Exomphalos–Macroglossia–Gigantism Syndrome) 4. Birt–Hogg–Dubé Syndrome 20 5. Bloom Syndrome 21 6. Breast/Ovarian Cancer, Hereditary (BRCA1) 22 7. Breast/Ovarian Cancer, Hereditary (BRCA2) 27 8. Carney Complex, Types I and II (formerly known as 30 NAME Syndrome [Nevi, Atrial Myxoma, Myxoid Neurofi bromata, and Ephelides] and LAMB Syndrome [Lentigines, Atrial Myxomata, Mucocutaneous Myxoma, Blue Nevi]) 9. Chordoma, Familial 31 10. Colon Cancer, Hereditary Nonpolyposis–Lynch 32 Syndrome (includes Lynch Syndrome, Hereditary Mismatch Repair Defi ciency Syndrome, Muir–Torre Syndrome, and a subset of Turcot Syndrome) 11. Costello Syndrome; Facio–Cutaneous–Skeletal Syndrome 35 12. Cowden Syndrome (Multiple Hamartoma Syndrome; 36 PTEN Hamartoma Tumor Syndrome) 13. Dyskeratosis Congenita 38 14. Esophageal Cancer, Tylosis with; Keratosis Palmaris 39 et Plantaris with Esophageal Cancer; Howel–Evans Syndrome 15. Exostosis, Hereditary Multiple (includes Type 1, 40 Type 2, Type 3, and Multiple Osteochondromas (Enchondromatosis) 16. Fanconi Anemia 41 17. Gastric Cancer, Hereditary Diffuse 43 18. Gastrointestinal Stromal Tumor; also Multiple 45 Gastrointestinal Autonomic Nerve Tumors 19. Hyperparathyroidism, Familial (includes Familial Isolated 46 Hyperparathyroidism and Familial Hyperparathyroidism with Multiple Ossifying Jaw Fibromas (aka Hereditary Hyperparathyroidism-Jaw Tumor Syndrome); Familial Cystic Parathyroid Adenomatosis) 20. Leukemia, Acute Myeloid, Familial 47 21. Leukemia, Chronic Lymphocytic, Familial 47 22. Li–Fraumeni Syndrome, including Li-Fraumeni-Like 48 Syndrome 23. Lymphoma, Hodgkin, Familial 50 24. Lymphoma, Non-Hodgkin, Familial 51 25. Melanoma, Hereditary Multiple (includes Dysplastic 52 Nevus Syndrome, Familial Atypical Mole–Malignant Melanoma Syndrome, Melanoma–Pancreatic Carcinoma Syndrome, Melanoma–Astrocytoma Syndrome, Familial Uveal Melanoma) 26. Mosaic Variegated Aneuploidy 56 27. Multiple Endocrine Neoplasia Type 1 (MEN1; Wermer 57 Syndrome; includes Zollinger–Ellison [Z–E] Syndrome; also Multiple Endocrine Neoplasia Type 1B [MEN 1B] noted) 28. Multiple Endocrine Neoplasia Type 2A, 2B 58 (Sipple Syndrome), and Familial Medullary Thyroid Cancer 29. Multiple Myeloma, Familial 60 30. Neuroblastoma, Hereditary 61 31. Neurofi bromatosis Type 1 (NF1; includes von 61 Recklinghausen Disease) 32. Neurofi bromatosis Type 2 (sometimes called 63 Central Neurofi bromatosis or Bilateral Acoustic Neurofi bromatosis) 33. Nijmegen Breakage Syndrome (formerly called 65 Ataxia Telangiectasia Variant or AT-V1; includes Berlin Breakage Syndrome, formerly called AT-V2) 34. Pancreatic Cancer, Hereditary 66 35. Paraganglioma, Hereditary 67 36. Peutz–Jeghers Syndrome 69 37. Polyposis, Familial Adenomatous (includes 71 Gardner Syndrome, Familial Multicentric Fibromatosis and/or Hereditary Desmoid Disease, and a subset of Turcot Syndrome) 38. Polyposis, Familial Juvenile (includes Hereditary 73 Mixed Polyposis Types 1 and 2) 39. Polyposis, MYH-Associated (MAP) 74 40. Prostate Cancer, Hereditary 75