(eBook) A Practical Guide to Human Cancer Genetics 4th Edition by Shirley V. Hodgson, William D. Foulkes

This is the PDF eBook version for A Practical Guide to Human Cancer Genetics 4th Edition by Shirley V. Hodgson, William D. Foulkes, Charis Eng, Eamonn R. Maher

Table of Contents

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