Testing for cancer susceptibility genes in children

It is currently estimated that about 5% of all cancers are inherited or associated with a hereditary susceptibility or predisposition. This relatively small proportion has received a great deal of attention and publicity. Primary care physicians and pediatricians are frequently confronted with their patients' desire to know whether they and their children and relatives are at increased risk to develop cancer, whether it is possible to identify those who are, and what can be done in terms of prevention and management. This chapter addresses the complexities of recent cancer genetics information to aid the pediatrician in (1) identifying families at increased risk for inherited cancer susceptibility, and (2) recognizing those patients in the pediatric population who might benefit from presymptomatic gene testing.