A Practical Guide to Human Cancer Genetics

by Shirley Hodgson , William Foulkes , Charis Eng , Eamonn Maher

• ISBN13: 9780521685634
• ISBN10: 052168563X
• Edition: 3rd
• Format: Paperback
• Copyright: 2006-12-11
• Publisher: Cambridge University Press

Summary

The third edition of this very successful book provides a comprehensive and practical guide to the diagnosis and management of inherited disorders conferring susceptibility to cancer. Issues discussed include risk assessment, genetic counselling, predictive testing and organisation of a cancer genetics service. A full reference list gives access to background literature. With completely up-to-date molecular information, screening guidelines and management advice, this new edition will provide geneticists and clinicians in all disciplines with an invaluable resource for screening, managing and advising patients.

Author Biography

Shirley Hodgson is Professor of Cancer Genetics at St George's Hospital Medical School, London, UK 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, Canada Charis Eng is Professor and Director of the Genomic Medicine Institute, Cleveland Clinic Foundation, and Professor and Vice Chairman of the Department of Genetics, CaseWestern Reserve University School of Medicine, Cleveland, USA 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, Birmingham, UK

Table of Contents

Preface	xi
Acknowledgements	xiii
Part one Cancer genetic counselling	1	(8)
Genetic counselling in a familial cancer clinic	3	(6)
Part two Genetics of human cancers by site of origin	9	(156)
Central nervous system	11	(9)
Vestibular schwannoma (acoustic neuroma)	12	(1)
Choroid plexus tumour	12	(1)
Ependymoma	13	(1)
Gliomas (including astrocytoma and glioblastoma)	13	(2)
Haemangioblastoma	15	(1)
Haemangioma	15	(1)
Medulloblastoma	16	(1)
Meningioma	16	(1)
Nerve root tumours	17	(1)
Neuroblastoma	17	(2)
Pineal tumour	19	(1)
Primitive neuroectodermal tumours	19	(1)
Eye	20	(8)
Retinoblastoma	20	(4)
Retinal astrocytic hamartoma	24	(1)
Optic glioma	24	(1)
Ocular choristoma	25	(1)
Cavernous haemangioma	25	(1)
Haemangioblastoma	25	(1)
Melanoma	26	(1)
Meningioma	27	(1)
Cardiorespiratory system and thorax	28	(5)
Head and neck cancer	28	(1)
Tumours of the thymus	29	(1)
Tumours of the lung	30	(2)
Cardiac tumours	32	(1)
Endocrine system	33	(9)
Thyroid tumours	33	(3)
Parathyroid tumours	36	(1)
Pituitary tumours	37	(1)
Adrenal gland tumours	37	(3)
Glomus tumours (non-chromaffin paraganglioma)	40	(1)
Pancreatic endocrine tumours	41	(1)
Gastrointestinal system	42	(25)
Oesophageal tumours	42	(2)
Salivary gland tumours	44	(1)
Gastric tumours	45	(2)
Hepatic tumours	47	(5)
Tumours of the gallbladder	52	(1)
Pancreatic cancer	52	(2)
Tumours of the small intestine	54	(1)
Gastrointestinal polyposis	55	(2)
Tumours of the colon and rectum	57	(4)
Identification of high-risk families	61	(2)
Pathological features and molecular diagnosis	63	(1)
Surveillance strategies	63	(3)
Chemoprophylaxis	66	(1)
Reproductive system	67	(45)
Breast cancer	67	(18)
Uterine tumours	85	(4)
Ovarian cancer	89	(15)
Cancer of the cervix	104	(1)
Other tumours of the female reproductive system	105	(7)
Urinary system	112	(8)
Renal neoplasms	112	(5)
Cancer of the ureter and renal pelvis	117	(1)
Bladder cancer	117	(3)
Blood and lymph	120	(12)
Leukaemia	120	(5)
Polycythaemia	125	(1)
Thrombocythaemia	125	(1)
Lymphoma	126	(3)
Myeloma	129	(1)
Waldenstrom macroglobulinaemia	130	(1)
Histiocytoses	130	(2)
Musculoskeletal system	132	(7)
Bone tumours	132	(1)
Osteosarcoma	132	(7)
Skin	139	(26)
Specific skin cancers	139	(9)
Inherited conditions predisposing to dermatological malignancy	148	(17)
Part three Cancer-predisposing syndromes	165	(98)
Inherited cancer-predisposing syndromes	167	(96)
Ataxia telangiectasia	167	(2)
Ataxia-telangiectasia-like disorder (ATLD)	169	(1)
Bannayan--Riley--Ruvalcaba syndrome (Bannayan--Zonana syndrome, Ruvalcaba--Riley--Smith syndrome)	169	(1)
Beckwith--Wiedemann syndrome (EMG syndrome and IGF2 overgrowth disorder)	170	(3)
Birt--Hogg--Dube syndrome	173	(1)
Blue rubber bleb naevus syndrome	173	(1)
Blackfan--Diamond syndrome	174	(1)
Bloom syndrome	174	(2)
Carney complex (Name syndrome, Lamb syndrome, Carney syndrome)	176	(1)
Cockayne syndrome	177	(1)
Coeliac disease	178	(1)
Common variable immunodeficiency	178	(1)
Costello syndrome	179	(1)
Cowden syndrome (multiple hamartoma syndrome)	179	(4)
Denys--Drash syndrome	183	(1)
Down syndrome	183	(1)
Familial adenomatous polyposis	184	(9)
Fanconi anaemia	193	(2)
Gorlin syndrome (naevoid basal cell carcinoma syndrome)	195	(5)
Hemihypertrophy	200	(1)
Hereditary non-polyposis colorectal cancer	200	(10)
Hyperparathyroidism--jaw tumour syndrome	210	(1)
Juvenile polyposis syndrome	211	(3)
Klinefelter syndrome	214	(1)
Kostmann syndrome (Kostmann infantile agranulocytosis)	214	(1)
Li--Fraumeni syndrome	215	(2)
Maffucci syndrome	217	(1)
McCune--Albright syndrome	218	(1)
Mosaic variegated aneuploidy	219	(1)
Multiple endocrine neoplasia type 1	220	(2)
Multiple endocrine neoplasia type 2	222	(1)
Multiple endocrine neoplasia type 2A	223	(1)
Multiple endocrine neoplasia type 2B	224	(5)
Muir--Torre syndrome	229	(1)
MYH associated Polyposis	230	(1)
N syndrome	230	(1)
Name syndrome	230	(1)
Neurofibromatosis type 1 (NF1, von Recklinghausen disease, peripheral NF)	230	(5)
Neurofibromatosis type 2 (central neurofibromatosis and bilateral acoustic neuroma neurofibromatosis)	235	(4)
Neurofibromatosis: atypical	239	(1)
Nijmegen breakage syndrome (including Semanova syndrome)	240	(1)
Perlman syndrome	240	(1)
Peutz--Jeghers syndrome	240	(3)
Porphyria	243	(1)
Rothmund--Thomson syndrome (poikiloderma congenitale)	244	(1)
Severe combined immunodeficiency disease	245	(1)
Shwachman--Diamond syndrome	245	(1)
Simpson--Golabi--Behmel syndrome	245	(1)
Tuberous sclerosis (tuberose sclerosis)	246	(4)
Turcot syndrome	250	(1)
Tylosis (keratosis palmaris et plantaris)	251	(1)
Von Hippel--Lindau disease	252	(5)
Werner syndrome	257	(1)
Wiscott--Aldrich syndrome	258	(1)
X-linked lymphoproliferative disorder (Duncan disease)	259	(1)
Xeroderma pigmentosum	259	(4)
Appendix	263	(12)
References	275	(106)
Index	381