A Practical Guide to Human Cancer Genetics

Shirley Hodgson0-511-34951-3, 0-521-68563-X, 9780521685634

This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. This new edition is fully updated with much more molecular, screening and management information. It covers risk analysis and genetic counseling for individuals with a family history of cancer, and also discusses predictive testing and the organization of the cancer genetics service. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines. This book differs from others in the field in that it is a practical handbook for easy reference for a wide clinical audience. There is a large reference list for further details, as well as information about the genes causing mendelian cancer predisposing condition and their mechanism of action.

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Table of contents :
Half-title……Page 3
Series-title……Page 4
Title……Page 5
Copyright……Page 6
Contents……Page 7
Dedication……Page 12
Preface……Page 13
Acknowledgements……Page 15
Part one Cancer genetic counselling……Page 17
1 Genetic counselling in a familial cancer clinic……Page 19
Part two Genetics of human cancers by site of origin……Page 25
2 Central nervous system……Page 27
Choroid plexus tumour……Page 28
Gliomas (including astrocytoma and glioblastoma)……Page 29
Haemangioma……Page 31
Meningioma……Page 32
Neuroblastoma……Page 33
Primitive neuroectodermal tumours……Page 35
Retinoblastoma……Page 36
Optic glioma……Page 40
Haemangioblastoma……Page 41
Melanoma……Page 42
Meningioma……Page 43
Nasopharynx……Page 44
Tumours of the thymus……Page 45
Tumours of the lung……Page 46
Cardiac tumours……Page 48
PTC of the thyroid……Page 49
FTC of the thyroid……Page 50
MTC of the thyroid……Page 51
Parathyroid tumours……Page 52
Phaeochromocytoma……Page 53
Adrenocortical adenoma and carcinoma……Page 55
Glomus tumours (non-chromaffin paraganglioma)……Page 56
Pancreatic endocrine tumours……Page 57
Oesophageal tumours……Page 58
Salivary gland tumours……Page 60
Gastric carcinoma……Page 61
Hepatoblastoma……Page 63
Hepatocellular carcinoma……Page 64
Hepatic angiosarcoma……Page 67
Pancreatic cancer……Page 68
Tumours of the small intestine……Page 70
Gastrointestinal polyposis……Page 71
Tumours of the colon and rectum……Page 73
Identification of high-risk families……Page 77
Surveillance strategies……Page 79
Chemoprophylaxis……Page 82
Background: epidemiology and family history……Page 83
The genes and the risks for cancer……Page 86
BRCA gene function……Page 89
Other genes involved in breast cancer susceptibility……Page 92
Histopathology of breast cancer and its relationship to genetics……Page 94
Genetic counselling……Page 95
Screening and prophylaxis……Page 97
Uterine tumours……Page 101
Carcinoma of the uterus……Page 103
Ovarian carcinoma……Page 105
Other ovarian neoplasms (Table 7.7)……Page 119
Cancer of the cervix……Page 120
Cancer of the external genitalia……Page 121
Prostate cancer……Page 122
Testicular neoplasms……Page 124
Testicular tumours in intersex states……Page 126
Epididymal tumours……Page 127
Wilms tumour……Page 128
RCC (adenocarcinoma, hypernephroma)……Page 131
Bladder cancer……Page 133
Acute lymphoblastic leukaemia……Page 136
Acute myeloid (myelogenous) leukaemia……Page 138
Chronic myeloid leukaemia……Page 139
Chronic lymphocytic leukaemia……Page 140
Thrombocythaemia……Page 141
Lymphoma……Page 142
Hodgkin disease……Page 143
Non-Hodgkin lymphoma……Page 144
Myeloma……Page 145
Histiocytoses……Page 146
Osteosarcoma……Page 148
Chondrosarcoma……Page 151
Rhabdomyosarcoma……Page 152
Other sarcomas……Page 153
Sacrococcygeal teratoma……Page 154
Specific skin cancers……Page 155
Familial melanoma……Page 158
Neurocutaneous melanosis……Page 162
Squamous cell carcinoma……Page 163
Tyrosinase-negative albinism……Page 164
Chediak–Higashi syndrome……Page 165
Bazex syndrome (Bazex–Dupre–Christol syndrome)……Page 166
Chronic mucocutaneous candidiasis syndrome……Page 167
Dyskeratosis congenita……Page 168
Epidermolysis bullosa……Page 169
Juvenile hyaline fibromatosis……Page 171
Lichen planus……Page 172
Multiple cutaneous leiomyomas……Page 173
Multiple lipomatosis: familial……Page 174
Pachyonychia congenita……Page 175
Pilomatrixoma (benign calcifying epithelioma of Malherbe)……Page 176
Proteus syndrome……Page 177
Trichoepithelioma……Page 178
Tylosis……Page 179
Part three Cancer-predisposing syndromes……Page 181
Ataxia telangiectasia……Page 183
Bannayan–Riley–Ruvalcaba syndrome (Bannayan–Zonana syndrome, Ruvalcaba–Riley–Smith syndrome)……Page 185
Beckwith–Wiedemann syndrome (EMG syndrome and IGF2 overgrowth disorder)……Page 186
Blue rubber bleb naevus syndrome……Page 189
Bloom syndrome……Page 190
Carney complex (NAME syndrome, LAMB syndrome, Carney syndrome)……Page 192
Cockayne syndrome……Page 193
Common variable immunodeficiency……Page 194
Cowden syndrome (multiple hamartoma syndrome)……Page 195
Down syndrome……Page 199
Familial adenomatous polyposis……Page 200
Management……Page 207
Fanconi anaemia……Page 209
Gorlin syndrome (naevoid basal cell carcinoma syndrome)……Page 211
Background: history and epidemiology……Page 216
Clinical features and pathology……Page 217
Diagnostic features……Page 218
Molecular genetics……Page 221
Screening……Page 223
Endometrial cancer in HNPCC……Page 224
Autosomal recessive childhood cancer predisposition syndrome……Page 225
Hyperparathyroidism–jaw tumour syndrome……Page 226
Juvenile polyposis syndrome……Page 227
Kostmann syndrome (Kostmann infantile agranulocytosis)……Page 230
Genetics……Page 231
Maffucci syndrome……Page 233
McCune–Albright syndrome……Page 234
Mosaic variegated aneuploidy……Page 235
Clinical features……Page 236
Genetic and medical management……Page 237
Multiple endocrine neoplasia type 2……Page 238
Multiple endocrine neoplasia type 2A……Page 239
Multiple endocrine neoplasia type 2B……Page 240
Molecular genetics of MEN 2……Page 241
RETand the practice of molecular-based medical management in MEN 2……Page 242
Muir–Torre syndrome……Page 244
MYH-associated polyposis (MAP)……Page 245
Neurofibromatosis type 1 (NF1, von Recklinghausen disease, peripheral NF)……Page 246
Specific tumour types in NF1……Page 249
Neurofibromatosis type 2 (central neurofibromatosis and bilateral acoustic neuroma neurofibromatosis)……Page 251
Neurofibromatosis: atypical……Page 255
Peutz–Jegher syndrome……Page 256
Clinical features……Page 257
Genetic and medical management……Page 258
Porphyria……Page 259
Rothmund–Thomson syndrome (poikiloderma congenitale)……Page 260
Simpson–Golabi–Behmel syndrome……Page 261
Tuberous sclerosis (tuberose sclerosis)……Page 262
Turcot syndrome……Page 266
Tylosis (keratosis palmaris et plantaris)……Page 267
Cerebellar haemangioblastoma (see p. 15)……Page 268
Retinal angiomatosis (see Fig. 12.8)……Page 269
Phaeochromocytoma……Page 270
Endolymphatic sac tumours……Page 272
Werner syndrome……Page 273
Wiscott–Aldrich syndrome……Page 274
Xeroderma pigmentosum……Page 275
Appendix: Genetic differential diagnoses by organ system neoplasms……Page 279
References……Page 291
Index……Page 397