ABSTRACT
Familial central nervous system tumors Introduction Table 1.7 lists some of the hereditary syndromes associated with brain tumors and the genetic defects that underlie each syndrome. In this chapter, we will emphasize the associated non-central nervous system (CNS) findings that should lead one to suspect the possibility of a hereditary brain tumor syndrome. Most of these syndromes are autosomal dominant, indicating that a careful family history will often identify the patient at risk. However, in many the penetrance is incomplete, and family members affected with the gene may not show clinical stigmata. In some, such as neurofibromatosis-1 (NF-1), tuberous sclerosis and retinoblastoma, the mutation rate is so high that the disorder often occurs in the absence of family history as a sporadic new mutation.
