A guide to cancer genetics in clinical practice

Abstract

The field of cancer genetics has rapidly emerged from the early nineties after the identification of the RB1 gene, the germline monoallelic mutations of which are associated with a 90% risk of retinoblastoma. The identification of genes associated with a high risk of frequent cancers, such as breast and colorectal cancers, has rapidly led to the development of cancer genetic clinics. Although less than 5% of cancers are linked to highly predisposing gene mutations, because of the high incidence of cancers one individual among 200 is affected by cancer genetics. Thus, cancer genetics is one of the emblematic fields of personalized genomic medicine and is prone to take part in the renewed practices of genetic medicine. However, this new field, and especially the management of high-risks individuals, still needs to be translated to the clinic. Sue Clark, a consultant colorectal surgeon in charge of the polyposis registry of the UK, has edited a guide to cancer genetics published by Tfm publishing. She was joined by a number of specialists of each of the reviewed syndromes. The guide starts with two chapters introducing to the general principles of Mendelian diseases and molecular genetics, and to cancer inheritance. A third chapter is dedicated to the ethical and legal aspects of genetic testing in the field of cancer genetics. The most frequent inherited cancer syndromes are reviewed in the next 10 chapters, according to the same plan: genetics, clinical picture, diagnosis, management, and future. A last chapter is an interesting reflexion on cancer genetics centers, and the future of cancer genetics practice including the introduction of the growing body of knowledge on multifactorial cancer inheritance. Despite some data to update, such as the CHK2 gene that is not any more involved in the Li-Fraumeni syndrome, this guide is an easy and pleasant read thanks to many tables, illustrations, and key points at the end of each chapter. This guide to cancer genetics is meant for students, genetic counsellors, geneticists not specialized in cancer genetics, and clinicians managing at risk individuals searching for an introduction to the cancer genetics field. If these were Sue Clark's objectives, they have been fully accomplished▪