2nd edition. Katherine A Schneider. (Pp 333; $39.95.) New York: Wiley-Liss. 2002. ISDN 0-471-37036-3.

The editors have solicited the opinions of two end users, Kevin Sweet, a certified genetic counsellor practising in the United States, and Gareth Evans, a physician clinical geneticist practising in the United Kingdom.

This is a handy, second edition of a comprehensive paperback book on cancer genetics that was originally written for genetic counsellors in 1995. With the new edition, and the rapid pace of human cancer genetics practice since, this book has evolved to become not only an invaluable resource for the genetic counsellor, but a practical guide for all involved in clinical cancer genetics.

The book comprises 10 chapters, with short, helpful introductions provided for each. The first few chapters cover cancer epidemiology, detection and treatment, and cancer biology. These sections may be particularly useful to the novice in the field. The book opens with cancer statistics and information on environmental risk factors, which can be helpful in explaining to a patient why their family history of cancer is not hereditary. Chapter 2 essentially lays the groundwork for making the diagnosis of, and providing treatment for, cancer. This includes important sections on tumour nomenclature, classification and clinical staging, and cancer treatment. Chapter 3 provides an overview of the unique features and functions of the cancer cell. Molecular aspects of cancer genetics are highlighted, with good (albeit short) descriptions of the roles of oncogenes, tumour suppressor, and DNA repair genes in cancer. Of note, and in keeping with current advances in cancer research, is a concise section on epigenetic mechanisms as contributors to the disease process. Easy to follow tables and useful illustrations (as found throughout the book) make these overview chapters a very satisfying read.

Chapter 4 serves as the heart of the book, especially for practitioners of clinical cancer genetics. In some ways, this hereditary cancer syndrome summary chapter may be considered a new addition, as it provides wonderful clinical summaries of 30 known syndromes (major and less common) that were lacking in the first edition. The summaries are concise, detailed, and current. They provide quick reference to the clinical features, cancer risks, diagnostic criteria, and the availability of gene testing. Practical cancer surveillance and prevention guidelines are included. Most interesting, and informative is the ability for one to glean from each clinical summary the unique aspects and fundamental nature of each syndrome. This will be the section I turn to most often in my work.

The momentum found to this point in the book gets bogged down in chapter 5. This chapter was conceived to be a quick reference source for determining differential diagnoses of hereditary cancer syndromes associated with a specific tumour type. It serves the purpose to some degree. There are 10 separate table listings of various cancer syndromes paired off with the sites of malignant and benign tumours. However, the tables would be more beneficial with the complete syndrome name written rather than the abbreviation. More so, the lists are not all inclusive. For example, under the skin tumour site listing for basal cell carcinoma, Bazex-Dupre-Christol is not mentioned although Rothmund-Thompson syndrome is. Each is equally rare. Another oversight was the exclusion of hereditary paraganglioma from the listing of endocrine system tumours. McCune-Albright syndrome is absent from the pituitary gland adenoma list, which includes MEN 1 and Carney complex. For the next edition it would be advantageous to complete these listings of proven component tumours (and possibly the perceived anecdotal ones) for each known syndrome, and then pair these with the clinical summaries in the previous chapter.

Chapter 6 aims to instruct on the collection and interpretation of cancer family histories, and enthusiastically succeeds. It makes a strong effort to impress upon health care providers the value of obtaining complete family history information while illustrating the many hurdles one may encounter in confirming the accuracy and interpretation of this information (for example, obtaining pathology verification of a cancer diagnosis in a deceased second degree relative). The chapter ends with realistic presentations of three case examples. Not only are these case stories enjoyable reading for the practitioner and student alike, they seamlessly reflect the classical patient encounters we all experience.

The remaining chapters are weighted towards the practice of cancer genetic counselling. Each is sprinkled with instructive patient case examples. These include chapters on the basics of a cancer genetic counselling session and a review of predisposition testing and counselling with results. The eighth chapter, on the psychological aspects of counselling, addresses the emotional and coping response of patients to understanding their risk for developing cancer. It offers sensible suggestions and counselling strategies to meet these needs. Lastly, useful guidelines for organising cancer support groups are given, along with a listing of specific Internet sites helpful for patients to contact. The closing chapter, entitled “The Ethical Issues”, reviews common principles that guide clinical genetics practice, and closes with the presentation of five case examples that serve to unify these concepts into practice.

In all, this is a unique book in its field and is practically useful in the clinic. The second edition has significantly improved on the original, and reflects the growing nature of a complex discipline. It also illustrates how the practice of clinical cancer genetics continues to serve as the paradigm for genetics care of the future. With few shortcomings, easy readability, mostly up to date coverage, and splendid illustrations and case examples, this book is a valuable resource for even the experienced clinical cancer genetic professional. For those new to the field, this text is a definite must read and one that should be kept close at hand.

Katherine Schneider’s updated book on cancer genetic counselling is a pleasurable read. The author has an easy narrative style, which is best illustrated by some excellent case examples, particularly in chapter 6. The book is particularly aimed at genetic counsellors, but it would also be of benefit for any health care worker involved in cancer genetic counselling or risk assessment. There is nice use of quotations, which are liberally sprinkled throughout the book, but particularly at the beginning of chapters. The book would be particularly useful for people just setting out on a career in cancer genetics or who are just about to set up a cancer genetic clinic. In particular, the middle part of the book is especially useful with important tips on collection and interpretation of cancer histories (chapter 6), the cancer genetics counselling sessions (chapter 7), and psychological aspects of cancer counselling (chapter 8). The book does, however, suffer from its single authorship in the more fact based chapters at the beginning of the book. There are a number of fairly basic errors, in particular in some of the tables of definition. By attempting to simplify some of the diagnostic criteria this could lead to mistaken classification. For instance, in the NF2 criteria, NF2 diagnosis could be made if a patient had a single neurofibroma and a cataract. The TNM classifications in particular for breast cancer have lost some vital criteria. There are also some inconsistencies, in particular, ovarian cancer five year survival is noted as 50% in table 1-7, yet falls to 25% on page 48. A further example of factual error, which is by no means the only one, is a quote that the Taschner 2001 paper on familial paraganglioma says that this condition is the result of uniparental disomy of SDHD. An irritating aspect of many of these errors is that it is not possible to obtain the source as the text is not referenced, with only example references at the end of each chapter. There is also nothing on mosaicism throughout the book which, in particular for conditions like NF2, is important, not only in diagnosis, but for genetic counselling. Mrs Schneider seems particularly fixated with the carcinogenic effect of alcohol (almost more so than smoking) and I am not quite sure what alcohol has done to become the bête noire.

With these exceptions aside, I was extremely impressed with Mrs Schneider’s book and in contradistinction to many textbooks which are dry and often very boring to read, she overcomes this even in the more factual elements of the book with her very readable writing style. Indeed, I wonder whether there is a possible career for Mrs Schneider in writing novels.