A Practical Guide to Human Cancer Genetics

A Practical Guide to Human Cancer Genetics

Paperback(Softcover reprint of the original 4th ed. 2014)

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Product Details

ISBN-13: 9781447171720
Publisher: Springer London
Publication date: 08/23/2016
Edition description: Softcover reprint of the original 4th ed. 2014
Pages: 420
Product dimensions: 6.10(w) x 9.25(h) x (d)

About the Author

Shirley Hodgson is Professor of Cancer Genetics at St George's Hospital Medical School.

Eamonn Maher is Professor of Medical Genetics and Head of Section of Medical and Molecular Genetics at the University of Birmingham School of Medicine's Institute of Biomedical Research. He is also Editor-in-Chief of the Journal of Medical Genetics.

Charis Eng is Professor and Director of the Genomic Medicine Institute, Cleveland Clinic Foundation, and Professor and Vice Chairman of the Department of Genetics, Case Western Reserve University School of Medicine.

William Foulkes is the Director of the Program in Cancer Genetics, Departments of Oncology and Human Genetics, and Associate Professor of the Department of Medicine, McGill University, Montreal.

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

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