Coincidence of Multiple Endocrine Neoplasia Types 1 and 2: Mutations in theRETProtooncogene andMEN1Tumor Suppressor Gene in a Family Presenting with Recurrent Primary Hyperparathyroidism
Author(s) -
Karin FrankRaue,
Susanne Rondot,
Wolfgang Hoeppner,
Peter E. Goretzki,
Friedhelm Raue,
Wieland Meng
Publication year - 2005
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2004-1759
Subject(s) - men1 , multiple endocrine neoplasia , mutation , primary hyperparathyroidism , germline mutation , cancer research , hyperparathyroidism , genetics , gene mutation , tumor suppressor gene , medicine , biology , gene , carcinogenesis
Primary hyperparathyroidism (HPT) presents as a part of inherited syndromes such as multiple endocrine neoplasia (MEN) types 1 and 2. In patients with MEN1, parathyroid hyperplasia or multiple adenomas occur in approximately 90-95%. MEN2A-related HPT is characterized by a mild hypercalcemia, which is mostly asymptomatic.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom