A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
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ABSTRACT:
SUBMITTER: Ullmann U
PROVIDER: S-EPMC3658184 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
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A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
Ullmann Urielle U Unuane David D Velkeniers Brigitte B Lissens Willy W Wuyts Wim W Bonduelle Maryse M
European journal of human genetics : EJHG 20121128 6
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant cancer syndrome that is caused by a germline mutation in the MEN1 gene encoding a tumour-suppressor protein, menin. MEN1 causes a combination of endocrine tumours such as parathyroid adenomas, pituitary adenomas, glucagonomas, gastrinomas, insulinomas, adrenocortical adenomas and non-endocrine tumours. We here present a large MEN1 family where the carriers developed mild hyperparathyroidism, multiple well-differentiated function ...[more]
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