Genetic counseling for childhood tumors and inherited cancer-predisposing syndromes

Abstract

In this chapter, the general principles regarding the genetic causes of childhood tumors are discussed. In addition, the main features of the more common genetic syndromes associated with childhood tumors are described, together with an outline of the underlying molecular mechanisms. Point mutations and also larger, chromosomal, changes are described. Practical advice is given for genetic counseling in general and more specific advice is provided for many of the syndromes. Details of helpful online sources of the latest information regarding cancer-related syndromes are given. Furthermore, to facilitate rapid access to such information, a freely accessible website is provided by the author, at www.essentialmedgen.com, that acts as a guide and portal to 70 international online resources, categorized according to content. Each internet resource contains detailed, up-to-date information regarding clinical details, testing laboratories, genes, proteins, analysis tools or patient support groups. Such information will provide a useful supplement to that contained herein.