| Preface | p. xi |
| Acknowledgements | p. xiii |
| Cancer genetic counselling | p. 1 |
| Genetic counselling in a familial cancer clinic | p. 3 |
| Genetics of human cancers by site of origin | p. 9 |
| Central nervous system | p. 11 |
| Vestibular schwannoma (acoustic neuroma) | p. 12 |
| Choroid plexus tumour | p. 12 |
| Ependymoma | p. 13 |
| Gliomas (including astrocytoma and glioblastoma) | p. 13 |
| Haemangioblastoma | p. 15 |
| Haemangioma | p. 15 |
| Medulloblastoma | p. 16 |
| Meningioma | p. 16 |
| Nerve root tumours | p. 17 |
| Neuroblastoma | p. 17 |
| Pineal tumour | p. 19 |
| Primitive neuroectodermal tumours | p. 19 |
| Eye | p. 20 |
| Retinoblastoma | p. 20 |
| Retinal astrocytic hamartoma | p. 24 |
| Optic glioma | p. 24 |
| Ocular choristoma | p. 25 |
| Cavernous haemangioma | p. 25 |
| Haemangioblastoma | p. 25 |
| Melanoma | p. 26 |
| Meningioma | p. 27 |
| Cardiorespiratory system and thorax | p. 28 |
| Head and neck cancer | p. 28 |
| Tumours of the thymus | p. 29 |
| Tumours of the lung | p. 30 |
| Cardiac tumours | p. 32 |
| Endocrine system | p. 33 |
| Thyroid tumours 3 | p. 3 |
| Parathyroid tumours | p. 36 |
| Pituitary tumours | p. 37 |
| Adrenal gland tumours | p. 37 |
| Glomus tumours (non-chromaffin paraganglioma) | p. 40 |
| Pancreatic endocrine tumours | p. 41 |
| Gastrointestinal system | p. 42 |
| Oesophageal tumours | p. 42 |
| Salivary gland tumours | p. 44 |
| Gastric tumours | p. 45 |
| Hepatic tumours | p. 47 |
| Tumours of the gallbladder | p. 52 |
| Pancreatic cancer | p. 52 |
| Tumours of the small intestine | p. 54 |
| Gastrointestinal polyposis | p. 55 |
| Tumours of the colon and rectum | p. 57 |
| Identification of high-risk families | p. 61 |
| Pathological features and molecular diagnosis | p. 63 |
| Surveillance strategies | p. 63 |
| Chemoprophylaxis | p. 66 |
| Reproductive system | p. 67 |
| Breast cancer | p. 67 |
| Uterine tumours | p. 85 |
| Ovarian cancer | p. 89 |
| Cancer of the cervix | p. 104 |
| Other tumours of the female reproductive system | p. 105 |
| Urinary system | p. 112 |
| Renal neoplasms | p. 112 |
| Cancer of the ureter and renal pelvis | p. 117 |
| Bladder cancer | p. 117 |
| Blood and lymph | p. 120 |
| Leukaemia | p. 120 |
| Polycythaemia | p. 125 |
| Thrombocythaemia | p. 125 |
| Lymphoma | p. 126 |
| Myeloma | p. 129 |
| Waldenstrom macroglobulinaemia | p. 130 |
| Histiocytoses | p. 130 |
| Musculoskeletal system | p. 132 |
| Bone tumours | p. 132 |
| Osteosarcoma | p. 132 |
| Skin | p. 139 |
| Specific skin cancers | p. 139 |
| Inherited conditions predisposing to dermatological malignancy | p. 148 |
| Cancer-predisposing syndromes | p. 165 |
| Inherited cancer-predisposing syndromes | p. 167 |
| Ataxia telangiectasia | p. 167 |
| Ataxia-telangiectasia-like disorder (ATLD) | p. 169 |
| Bannayan-Riley-Ruvalcaba syndrome (Bannayan-Zonana syndrome, Ruvalcaba-Riley-Smith syndrome) | p. 169 |
| Beckwith-Wiedemann syndrome (EMG syndrome and IGF2 overgrowth disorder) | p. 170 |
| Birt-Hogg-Dube syndrome | p. 173 |
| Blue rubber bleb naevus syndrome | p. 173 |
| Blackfan-Diamond syndrome | p. 174 |
| Bloom syndrome | p. 174 |
| Carney complex (NAME syndrome, LAMB syndrome, Carney syndrome) | p. 176 |
| Cockayne syndrome | p. 177 |
| Coeliac disease | p. 178 |
| Common variable immunodeficiency | p. 178 |
| Costello syndrome | p. 179 |
| Cowden syndrome (multiple hamartoma syndrome) | p. 179 |
| Denys-Drash syndrome | p. 183 |
| Down syndrome | p. 183 |
| Familial adenomatous polyposis | p. 184 |
| Fanconi anaemia | p. 193 |
| Gorlin syndrome (naevoid basal cell carcinoma syndrome) | p. 195 |
| Hemihypertrophy | p. 200 |
| Hereditary non-polyposis colorectal cancer | p. 200 |
| Hyperparathyroidism-jaw tumour syndrome | p. 210 |
| Juvenile polyposis syndrome | p. 211 |
| Klinefelter syndrome | p. 214 |
| Kostmann syndrome (Kostmann infantile agranulocytosis) | p. 214 |
| Li-Fraumeni syndrome | p. 215 |
| Maffucci syndrome | p. 217 |
| McCune-Albright syndrome | p. 218 |
| Mosaic variegated aneuploidy | p. 219 |
| p. 220 |
| p. 222 |
| p. 223 |
| p. 224 |
| Muir-Torre syndrome | p. 229 |
| MYH associated Polyposis | p. 230 |
| N syndrome | p. 230 |
| Name syndrome | p. 230 |
| Neurofibromatosis type 1 (NF1, von Recklinghausen disease, peripheral NF) | p. 230 |
| Neurofibromatosis type 2 (central neurofibromatosis and bilateral acoustic neuroma neurofibromatosis) | p. 235 |
| Neurofibromatosis: atypical | p. 239 |
| Nijmegen breakage syndrome (including Semanova syndrome) | p. 240 |
| Perlman syndrome | p. 240 |
| Peutz-Jeghers syndrome | p. 240 |
| Porphyria | p. 243 |
| Rothmund-Thomson syndrome (poikiloderma congenitale) | p. 244 |
| Severe combined immunodeficiency disease | p. 245 |
| Shwachman-Diamond syndrome | p. 245 |
| Simpson-Golabi-Behmel syndrome | p. 245 |
| Tuberous sclerosis (tuberose sclerosis) | p. 246 |
| Turcot syndrome | p. 250 |
| Tylosis (keratosis palmaris et plantaris) | p. 251 |
| Von Hippel-Lindau disease | p. 252 |
| Werner syndrome | p. 257 |
| Wiscott-Aldrich syndrome | p. 258 |
| X-linked lymphoproliferative disorder (Duncan disease) | p. 259 |
| Xeroderma pigmentosum | p. 259 |
| Appendix | p. 263 |
| References | p. 215 |
| Index | p. 381 |
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