Familial breast and ovarian cancer : genetics, screening and management

This publication surveys the profound and far-reaching ramifications that have arisen from the very significant advances in our understanding of the genetic basis of familial breast and ovarian cancer. Written by international experts from Europe and North America, this book provides the busy clinician with a contemporary and wide-ranging guide to the latest developments in the diagnosis, genetics, screening, prevention and management of familial breast cancer. This area has advanced in knowledge so rapidly that this publication provides an unrivalled source of information including sections on ethical and insurance issues and the different cultural differences in breast cancer. The use of recently devised cancer genetics clinics and different referral criteria and patterns to these clinics are detailed. The volume will be of immense value to all clinical geneticists, oncologists, and healthcare professionals involved in screening and counselling programmes.

Helena KennedyPatrick J. Morrison and Shirley V. Hodgson and Neva E. HaitesNeva Haites and Helen GregoryCharis EngPierre O. Chappuis and William D. FoulkesH. F. A. Vasen and M. A. NooyPierre O. Chappuis and Dominique Stoppa-Lyonnet and Bernard Asselain and William D. FoulkesSunil R. Lakhani and Adrienne M. FlanaganJenny Chang-Claude and Heiko BecherJonathon GrayDiana M. EcclesNeva E. Haites and Shirley V. Hodgson and the Scottish Office Working Group on Cancer GeneticsShirley V. HodgsonPal Moller and C. Michael SteelBarnaby Rufford and Usha Menon and Ian JacobsPierre O. Chappuis and William D. FoulkesDirk Brinkmann and Ian JacobsD. G. R. Evans and F. I. Lalloo and A. D. BaildamAlison Bish and Steven SuttonLucy Brooks and Andrew Shenton and F. I. Lalloo and D. G. R. EvansPatrick J. Morrison and C. Michael SteelRichard Kennedy and Patrick G. JohnstonPatrick J. Morrison and Shirley V. Hodgson and Neva E. Haites

List of contributors	p. ix
Foreword	p. xiii
Preface	p. xv
Part 1 Molecular biology and natural history	p. 1
1 Introduction	p. 3
2 Overview of the clinical genetics of breast cancer	p. 6
3 Cowden syndrome and related disorders	p. 22
4 Overview of the clinical genetics of ovarian cancer	p. 43
5 Ovarian and breast cancer as part of hereditary non-polyposis colorectal cancer (HNPCC) and other hereditary colorectal cancer syndromes	p. 73
6 The natural history of hereditary breast cancer	p. 81
7 Pathology of the breast and ovary in mutation carriers	p. 108
8 Risk estimation for familial breast and ovarian cancer	p. 125
Part 2 Screening	p. 141
9 Developing a cancer genetics service: a Welsh model	p. 143
10 Referral criteria for cancer genetics clinics	p. 157
11 Guidelines for the development of cancer genetics services	p. 166
12 Cultural and educational aspects influencing the development of cancer genetics services in different European countries	p. 194
13 Screening, detection and survival patterns of breast and other cancers in high-risk families	p. 204
14 Screening for familial ovarian cancer	p. 220
Part 3 Management	p. 235
15 Management of BRCA1/2 mutation carriers	p. 237
16 Management of familial ovarian cancer	p. 275
17 Prophylactic mastectomy in mutation carriers	p. 286
18 Psychosocial aspects of genetic counselling for breast and ovarian cancer	p. 295
19 BRCA1/2 testing: uptake and its measurement	p. 306
20 Breast cancer genetics: ethical, social and insurance issues	p. 339
21 Gene therapy for breast and ovarian cancer	p. 372
22 Future directions	p. 384
Index	p. 393

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Table of Contents