Tham E et al. (2007) Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases. J Clin Endocrinol Metab 92: 3389–3395

Menin, a nuclear tumor-suppressor protein, is encoded by the MEN1 gene. Mutations in this gene result in multiple endocrine neoplasia, which causes parathyroid, pituitary and enteropancreatic tumors. Tham et al. conducted a study to determine the spectrum of MEN1 mutations and the detection rate among patients with endocrine tumors in Sweden.

Of 200 probands referred for MEN1 testing, mutations were found in 48. Forty different MEN1 mutations were found, 18 of which were novel. When relatives of the probands were included, 106 of 371 patients tested had MEN1 mutations. Of 115 patients with clinical MEN1 (defined as having tumors in at least two major locations), 54 had a MEN1 gene mutation. No correlation was found between mutation type and disease severity. MEN1 mutations were found in 94% of patients from MEN1 families and in 6% of sporadic cases. As only the coding region of the gene was tested, it is possible that the remaining familial cases had mutations in the regulatory portion of MEN1.

The authors recommend that patients with endocrine tumors aged <30 years and/or those with multiple tumors should be tested for MEN1 mutations. The authors' screening program routinely includes multiplex ligation-dependent probe amplification, to detect large deletions; two such mutations were uncovered in the present study.