The Parathyroid/Pituitary Variant of Multiple Endocrine Neoplasia Type 1 Usually Has Causes Other thanp27Kip1Mutations
Author(s) -
Atsushi Ozawa,
Sunita Agarwal,
César Mateo,
A. Lee Burns,
Terri S. Rice,
Patricia A. Kennedy,
Caitlin Quigley,
William F. Simonds,
Lee S. Weinstein,
Settara C. Chandrasekharappa,
Francis S. Collins,
Allen M. Spiegel,
Stephen J. Marx
Publication year - 2007
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.2006-2563
Subject(s) - men1 , multiple endocrine neoplasia , endocrinology , medicine , context (archaeology) , endocrine system , germline mutation , germline , mutation , pituitary tumors , hyperparathyroidism , biology , genetics , hormone , gene , paleontology
One variant of multiple endocrine neoplasia type 1 (MEN1) is defined by sporadic tumors of both the parathyroids and pituitary. The prevalence of identified MEN1 mutations in this variant is lower than in familial MEN1 (7% vs. 90%), suggesting different causes. Recently, one case of this variant had a germline mutation of p27(Kip1)/CDKN1B.
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