The genetics of endocrine neoplasia

Abstract

The hereditary endocrine neoplasias are characterized by the development of benign or malignant tumors in more than one endocrine tissue. These tumors typically occur at a younger age than sporadic endocrine tumors and follow an autosomal dominant pattern of inheritance. Because of the age-related penetrance and extreme phenotypic variability both within and between families, clinicians cannot always rely on the family history to make the diagnosis. Recognition of the features of a hereditary endocrine syndrome can allow for appropriate and timely risk assessment, genetic counseling and genetic testing, and identification of at-risk family members who may benefit from early and regular screening.