EPIDEMIOLOGY AND BIOLOGY OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A

$42,739M01FY2000RRNIH

Tufts Medical Center, Boston MA

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Abstract

This longitudinal study of prospective screening of a large kindred was started in 1971. Its purposes are (1) to develop the most sensitive methods for the early diagnosis of thyroid C-cell and adrenal medullary neoplasia, and to determine the impact of prospective screening for medullary thyroid carcinoma and pheochromocytoma on the natural history of MEN-2a. We have determined the genetic defect in this family and now are using PCR of the involved DNA to make the diagnosis of gene carriers.

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