Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A
Open Access
- 29 September 1994
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 331 (13) , 828-835
- https://doi.org/10.1056/nejm199409293311302
Abstract
Multiple endocrine neoplasia type 2A (MEN-2A) is characterized by medullary thyroid carcinoma in combination with pheochromocytoma and sometimes parathyroid adenoma. Missense mutations in the RET proto-oncogene are associated with MEN-2A. Their detection by DNA analysis allows the identification of carriers of the gene, in whom the risk of medullary thyroid carcinoma is 100 percent. We compared the reliability of biochemical tests with that of DNA analysis in identifying carriers of the MEN2A gene.Keywords
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