Abstract
Dideoxyfingerprinting was used to screen for germline and somatic MEN1 mutations. This method, applied to a panel of germline DNA from 15 probands with multiple endocrine neoplasia type 1 (MEN-1), allowed confident discovery of the MEN1 gene. Germline MEN1 mutation has been found in 47 out of 50 probands with familial MEN-1, in 7 out of 8 cases with sporadic MEN-1, and in 1 out of 3 cases with atypical sporadic MEN-1. Germline MEN1 mutation was not found in any of five probands with familial hyperparathyroidism. Somatic MEN1 mutations were found in 7 out of 33 parathyroid tumours not associated with MEN-1. Allowing for repeating mutations, a total of 47 different germline or somatic MEN1 mutations have been identified. Most predict inactivation of the encoded 'menin' protein, supporting expectations that MEN1 is a tumour suppressor gene. The 16 observed missense mutations were distributed across the gene, suggesting that many domains are important to its as yet unknown functions.
Original language | English (US) |
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Pages (from-to) | 447-453 |
Number of pages | 7 |
Journal | Journal of Internal Medicine |
Volume | 243 |
Issue number | 6 |
DOIs | |
State | Published - 1998 |
Externally published | Yes |
Keywords
- Gastrinoma
- Oncogene
- Parathyroid adenoma
- Tumour suppressor
ASJC Scopus subject areas
- Internal Medicine