Genetic Predisposition to Cancer, 2Ed

467 Pages·2004·5.191 MB·English

by  Eng, Ros

Genetic Predisposition
to Cancer
Second edition
Edited by
ROSALIND A. EELESMAPhDFRCPFRCR
Reader in Clinical Cancer Genetics and Honorary Consultant in
Cancer Genetics and Clinical Oncology, Institute of Cancer
Research; and Royal Marsden NHS Foundation Trust, Surrey, UK
DOUGLAS F. EASTONPhDFMedSci
Director, Cancer Research UK Genetic Epidemiology Unit;
and Professor of Genetic Epidemiology, University of Cambridge,
Strangeways Research Laboratory,Cambridge, UK
BRUCE A.J. PONDERPhDFRCPFRCPathFMedSciFRS
Cancer Research UK Professor of Oncology; and Co-Director,
Hutchison/MRC Research Centre and Strangeways Laboratory
for Genetic Epidemiology,
University of Cambridge, Cambridge, UK
and
CHARIS ENG MDPhDFACP
Dorothy E. Klotz Chair of Cancer Research;
Professor and Director, Division of Human Genetics, Department
of Internal Medicine; and
Director, Clinical Cancer Genetics Program
The Ohio State University, Columbus, Ohio, USA
A member ofthe Hodder Headline Group
LONDON
First published in Great Britain in 1996 by Chapman and Hall
This second edition published in 2004 by
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To those patients and their families who have led us to the discoveries ofgenetic predisposition
to cancer that have resulted in prevention or early diagnosis in others.
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Contents
Contributors vii
Foreword by Sir Walter Bodmer xi
Foreword by Henry T. Lynch xiii
Preface xv
Acknowledgements xvii
Glossary xix
The colour plate section appears between pages 330 and 331
PART 1 BASIC PRINCIPLES
1 Genetic predisposition to cancer: an introduction 3
D. Timothy Bishop
2 Biological basis of cancer predisposition 11
Yves-Jean Bignon
3 From families to chromosomes: genetic linkage and association studies for finding cancer-
predisposition genes 21
Douglas F. Easton
4 From chromosomes to genes: how to isolate cancer-predisposition genes 41
Richard Wooster
5 Screening for mutations in cancer-predisposition genes 48
Jan Vijg and Yousin Suh
PART 2 INHERITED CANCER SYNDROMES
6 Retinoblastoma: the paradigm for a genetically inherited cancer syndrome 63
Christopher Mitchell
7 Neurofibromatosis types 1 and 2 73
Susan M. Huson and Aurelia Norton
8a Multiple endocrine neoplasia type 1 97
Teresa Rudkin and William D. Foulkes
8b Multiple endocrine neoplasia type 2 105
Charis Eng and Bruce A.J. Ponder
9 Wilms tumour and other childhood renal tumours 119
Kathryn Pritchard-Jones and Norman Breslow
10 Genetic susceptibility to renal cell carcinoma 132
Eamonn R. Maher and Berton Zbar
11 The Li–Fraumeni syndrome and the role of TP53mutations in predisposition to cancer 141
Jillian M. Birch
12 Cowden syndrome 155
Charis Eng
vi Contents
PART 3 CHROMOSOME FRAGILITY SYNDROMES AND THE GORLIN SYNDROME
13 Clinical, cellular and mutational variations in ataxia telangiectasia 169
A. Malcolm R. Taylor, Grant Stewart, Tatjana Stankovic, Somai Man and Philip J. Byrd
14 Fanconi anaemia 180
Pia A.J. Huber and Christopher G. Mathew
15 The Gorlin (nevoid basal cell carcinoma) syndrome 193
Peter A. Farndon
16 Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: sun sensitivity, DNA
repair defects and skin cancer 214
Colin F. Arlett and Alan R. Lehmann
PART 4 THE COMMON CANCERS
17 Genetics and the common cancers 235
Richard S. Houlston and Julian Peto
18 Familial breast cancer 248
Asher Y. Salmon and Rosalind A. Eeles
19 The BRCA1andBRCA2genes 256
Deborah Thompson and Douglas F. Easton
20 Screening for breast cancer in high-risk populations 277
Sue Moss
21 Risk-reducing mastectomy 286
Timothy I. Davidson and Nigel P.M. Sacks
22 The role of chemoprevention in breast cancer 296
Paul J. Ross and Trevor J. Powles
23 Familial ovarian cancer: genetics and management 303
Paul D.P. Pharoah and Bruce A.J. Ponder
24 Familial colon cancer syndromes and their genetics 315
Susan M. Farrington and Malcolm G. Dunlop
25 Screening and management of familial colon cancer 331
Shirley V. Hodgson and Victoria Murday
26 Familial prostate cancer and its management 339
Rashmi Singh, Rosalind A. Eeles, Lisa Cannon-Albright and William Isaacs
27 Familial melanoma and its management 352
Alisa M. Goldstein and Margaret A. Tucker
28 Familial predisposition to lung cancer 360
Thomas A. Sellers, Gloria M. Petersen and Ping Yang
29 Genetic susceptibility to carcinoma of the head and neck, stomach, and pancreas 368
William D. Foulkes, Elsa Lanke, Sarah Jefferies and Pierre O. Chappuis
PART 5 PSYCHOSOCIAL, ETHICAL AND ORGANISATIONAL ISSUES
30 The cancer family clinic 391
Rosalind A. Eeles and Victoria A. Murday
31 Psychological issues in cancer genetics 404
Kathryn M. Kash, Mary Kay Dabney and Susan K. Boolbol
32 The ethics of testing for cancer-predisposition genes 414
D. Gareth R. Evans and Patrick J. Morrison
Index 425
Contributors
Colin F ArlettBScPhD Mary Kay Dabney MS
Professor, Genome Damage and Stability Centre, Clinic Audit Coordinator, Guy’s and St Thomas’ NHS Trust,
University of Sussex, London, UK
Brighton, UK
Timothy I Davidson ChMMRCPFRCS
Yves-Jean BignonMDPhD Consultant Breast Surgeon,
Professor, Unit of Oncogenetics, University Department of Surgery,
Centre J Perrin, The Royal Free Hospital, London, UK
Clermont-Ferrand, France
Malcolm G DunlopMDFRCS
Professor and Group Leader, University of Edinburgh,
Jillian M Birch PhD
Colon Cancer Genetics Group,
Professor and Group Director,
MRC Human Genetics Unit,
Cancer Research UK Paediatric and
Western General Hospital,
Familial Cancer Research Group,
Edinburgh, UK
Royal Manchester Children’s Hospital,
Stancliffe, Manchester, UK Douglas F Easton PhDFMedSci
Director,
D Timothy Bishop PhD
Cancer Research UK Genetic Epidemiology Unit; and
Professor, Genetic Epidemiology Division,
Professor of Genetic Epidemiology, University of Cambridge,
Cancer Research UK Clinical Centre in Leeds,
Strangeways Research Laboratory,
St James’s University Hospital, Leeds, UK
Cambridge, UK
Susan K Boolbol MD Rosalind A EelesMAPhDFRCPFRCR
Breast Surgeon, Beth Israel Medical Center,
Reader in Clinical Cancer Genetics and Honorary Consultant,
New York, USA
Cancer Genetics and Clinical Oncology,
Institute of Cancer Research; and Royal Marsden NHS
Norman E Breslow PhD
Foundation Trust, Surrey, UK
Professor, Department of Biostatistics,
University of Washington, Charis EngMDPhDFACP
Seattle, Washington, USA Dorothy E. Klotz Chair of Cancer Research;
William C. and Joan E. Davis Professor of Cancer Research;
Philip J Byrd PhD
Professor and Director,
Cancer Research UK Institute for Cancer Studies,
Division of Human Genetics,
Department of Cancer Studies,
Department of Internal Medicine;
University of Birmingham Medical School,
Director, Clinical Cancer Genetics Program,
Birmingham, UK
The Ohio State University,
Lisa Cannon-Albright PhD Columbus, Ohio, USA
Professor, Department of Medical Informatics,
D Gareth R EvansMBBSMDFRCP
The University of Utah,
Professor, Department of Cancer Genetics,
Salt Lake City, Utah, USA
Paterson Institute for Cancer Research,
Pierre O Chappuis MD Christie Hospital, Manchester; and
McGill University Health Centre Research Institute; and University Department of Medical Genetics and Regional
Departments of Medicine, Genetics Service,
Human Genetics and Oncology, St Mary’s Hospital,
McGill University, Montreal, Quebec, Canada Manchester, UK
viii Contributors
Peter A FarndonBSCMDMBBSFRCPDCH Kathryn M KashPhD
Professor of Clinical Genetics, Associate Professor,
Consultant Clinical Geneticist, Thomas Jefferson University,
University Department of Clinical Genetics, Department of Psychiatry and Human Behavior,
Birmingham Women’s Hospital, Philadelphia, Pennsylvania, USA
Birmingham, UK
Elsa Lanke MSc
Susan M FarringtonPhD Research Institute of the McGill University Health Centre; and
University of Edinburgh,
Departments of Medicine,
Colon Cancer Genetics Group,
Human Genetics and Oncology,
MRC Human Genetics Unit,
McGill University, Montreal,
Western General Hospital,
Quebec, Canada
Edinburgh, UK
William D Foulkes MBPhD Alan R LehmannBAPhD
Professor and Chairman,
Program in Cancer Genetics,
Genome Damage and Stability Centre,
Departments of Oncology and
University of Sussex,
Human Genetics; and Department of Medicine,
Brighton, UK
McGill University, Montreal, Quebec, Canada
Alisa M GoldsteinPhD Eamonn R MaherMDFRCP
Senior Investigator, Professor and Head,
Division of Cancer Epidemiology and Genetics, Section of Medical and Molecular Genetics,
Genetic Epidemiology Branch, Division of Reproductive and Child Health,
NCI/NIH/DHHS, University of Birmingham,
Bethesda, Maryland, USA The Medical School,
Birmingham, UK
Shirley V Hodgson DCFRCP
Professor, Department of Medical Genetics, Somai Man PhD
St George’s Hospital, Cancer Research UK Institute for Cancer Studies,
London, UK Department of Cancer Studies,
University of Birmingham Medical School,
Richard S Houlston MDPhDFRCPFRCPath
Birmingham, UK
Reader in Genetic Epidemiology, Section of Cancer
Genetics, Institute of Cancer Research,
Christopher G MathewPhDFRCPathFMedSci
Surrey, UK
Professor of Molecular Genetics,
Pia AJ Huber PhD Division of Genetics and Development,
Division of Genetics and Development, Guy’s, King’s and St Thomas’ School of Medicine,
Guy’s, King’s and St Thomas’ School of Medicine, Guy’s Hospital,
King’s College London, Guy’s Hospital, London, UK
London, UK
Christopher Mitchell PhDFRCP
Susan M HusonMDFRCP Consultant Paediatric Oncologist,
Consultant Clinical Geneticist,
The John Radcliffe Hospital,
Department of Clinical Genetics,
Headington, Oxford, UK
Oxford Radcliffe Hospital, The Churchill Hospital,
Oxford, UK Patrick J MorrisonMBBChMDFRCPCHMFPHMI
Professor,
William IsaacsMD
Department of Medical Genetics,
Professor, Department of Urology,
Belfast City Hospital Trust,
Johns Hopkins University School of Medicine,
Belfast, UK
Marburg 105 Brady Urological Institute,
Baltimore, Maryland, USA
Sue Moss PhDHonMFPHM
Sarah Jefferies MRCPFRCR Associate Director of Unit,
Consultant in Clinical Oncology, Cancer Screening Evaluation Unit,
Addenbrook’s NHS Foundation Trust, Institute of Cancer Research,
Cambridge, UK Surrey, UK
Contributors ix
Victoria A Murday BSFRCP Nigel PM Sacks MSFRCSFRACS
Consultant Clinical Geneticist, Consultant Breast Surgeon,
Ferguson-Smith Centre for Clinical Genetics, The Royal Marsden NHS Foundation Trust,
Yorkhill Division, NHS Greater Glasgow, Glasgow, UK London, UK
Aurelia Norton Asher Y Salmon MD
Clinical Fellow in Paediatric Oncology, Barclay Clinical Research Fellow,
Royal Marsden NHS Foundation Trust, Section of Cancer Genetics,
Surrey, UK Institute of Cancer Research,
UK and Hadassah Medical Centre,
Gloria M Petersen PhD Jerusalem, Israel
Genetic Epidemiology,
Prevention and Control Program, Thomas A SellersPhDMPH
Mayo Clinic Cancer Center, Associate Director,
Minnesota, USA H Lee Moffitt Cancer Center and Research Institute,
Florida, USA
Julian Peto DScFMedSc
Cancer Research UK Professor of Epidemiology, Rashmi Singh FRCS(Urol)
London School of Hygiene and Tropical Medicine,
Clinical Research Fellow,
London, UK; and Institute of Cancer Research,
Translational Cancer Genetics Team; and Urology Unit,
Surrey, UK
Institute of Cancer Research; andRoyal Marsden NHS
Foundation Trust, Surrey, UK
Paul DP PharoahPhDMRCP
Cancer Research UK Senior Clinical Research Fellow,
Tatjana Stankovic MDPhD
Department of Oncology,
Cancer Research UK Institute for Cancer Studies,
University of Cambridge,
Department of Cancer Studies,
Strangeways Research Laboratories,
University of Birmingham Medical School,
Cambridge, UK
Birmingham, UK
Bruce AJ PonderPhDFRCPFRCPathFMedSciFRS
Grant Stewart PhD
Cancer Research UK Professor of Oncology; and Co-Director,
Cancer Research UK Institute for Cancer Studies,
Hutchinson/MRC Research Centre and Strangeways Laboratory
Department of Cancer Studies,
for Genetic Epidemiology,
University of Birmingham Medical School,
University of Cambridge,
Birmingham, UK
Cambridge, UK
Trevor J PowlesCBEPhDFRCP Yousin SuhPhD
Department of Physiology,
Parkside Oncology Clinic,
University of Texas Health Science Center,
Wimbledon,
San Antonio, Texas,USA;
London, UK
Formerly Department of Biochemistry and Molecular Biology,
Seoul National University,
Kathryn Pritchard-Jones PhDFRCPEFRCPCH
College of Medicine,
Consultant Paediatric Oncologist,
Seoul, Korea
The Royal Marsden NHS Foundation Trust,
Surrey, UK
A Malcolm R Taylor MSCPhD
Paul J Ross MRCP Professor,
Specialist Registrar, Cancer Research UK Institute for Cancer Studies,
The Royal Marsden NHS Foundation Trust, Department of Cancer Studies,
Surrey, UK University of Birmingham Medical School,
Birmingham, UK
Teresa Rudkin MDMSC
McGill University Health Centre; and Deborah Thompson PhD
Department of Human Genetics, Statistician, Cancer Research UK Genetic Epidemiology Unit,
McGill University, Strangeways Research Laboratories,
Montreal, Quebec, Canada Cambridge, UK