Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas
Author(s) -
Paul Newey,
M. Andrew Nesbit,
Andrew J. Rimmer,
Moustafa Attar,
R. A. Head,
Paul T. Christie,
Caroline M. Gorvin,
Michael Stechman,
Lorna Gregory,
Radu Mihai,
Greg Sadler,
Gil McVean,
David Buck,
Rajesh V. Thakker
Publication year - 2012
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.2012-2303
Subject(s) - men1 , biology , exome sequencing , missense mutation , multiple endocrine neoplasia , parathyroid carcinoma , exome , loss of heterozygosity , parathyroid neoplasm , genetics , germline mutation , mutation , parathyroid hormone , cancer research , nonsynonymous substitution , carcinogenesis , medicine , gene , carcinoma , adenoma , parathyroid adenoma , allele , genome , calcium
Genetic abnormalities, such as those of multiple endocrine neoplasia type 1 (MEN1) and Cyclin D1 (CCND1) genes, occur in <50% of nonhereditary (sporadic) parathyroid adenomas.
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