Use of mutation analysis in endocrine neoplasia syndromes.

摘要

The major benefit in the identification of gene mutations causing endocrine neoplasia syndromes has been to allow accurate and rapid diagnosis of affected family members. In particular, the focus of clinical surveillance, radiology and endocrine tests can be on only those carrying mutations. It also allows testing of young individuals with apparently sporadic endocrine tumours, and many families with occult disease have been diagnosed and treated over the last 15 years.