A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

ABSTRACT:

Introduction

Mutation testing for the MEN1 gene is a useful method to diagnose and predict individuals who either have or will develop multiple endocrine neoplasia type 1 (MEN 1). Clinical selection criteria to identify patients who should be tested are needed, as mutation analysis is costly and time consuming. This study is a report of an Australian national mutation testing service for the MEN1 gene from referred patients with classical MEN 1 and various MEN 1-like conditions.

Results

All 55 MEN1 mutation positive patients had a family history of hyperparathyroidism, had hyperparathyroidism with one other MEN1 related tumour, or had hyperparathyroidism with multiglandular hyperplasia at a young age. We found 42 separate mutations and six recurring mutations from unrelated

SUBMITTER: Cardinal JW 

PROVIDER: S-EPMC1735899 | biostudies-literature | 2005 Jan

REPOSITORIES: biostudies-literature