publication . Doctoral thesis . 2008

Multiple Endocrine Neoplasia Type 1 (MEN1) and Pituitary Adenoma Predisposition (PAP) in Northern Finland

Vierimaa, O. (Outi);
Open Access English
  • Published: 17 Jun 2008
  • Publisher: University of Oulu
  • Country: Finland
Abstract
Abstract Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome characterized by parathyroid, gastroenteropancreatic and pituitary neuroendocrine tumours. In Northern Finland, two founder mutations of the MEN1 gene (1466del12, 1657insC) accounting for the majority of the MEN1 cases, have common ancestors born in the 18th and 19th centuries, respectively. Three small clusters of familial pituitary adenoma have also been detected, two of which could be linked by genealogy to a common ancestral couple born in the 18th century. Clinical evaluation of 82 MEN1 mutation carriers showed that age was a risk factor for most of the MEN1-related manifestations....
Subjects
free text keywords: genetic predisposition, multiple endocrine neoplasia type 1, pituitary adenoma, primary hyperparathyroidism
Related Organizations
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