Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
Title | Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. |
Publication Type | Journal Article |
Year of Publication | 2007 |
Authors | Georgitsi, M., Raitila A., Karhu A., van der Luijt R. B., Aalfs C. M., Sane T., Vierimaa O., Mäkinen M. J., Tuppurainen K., Paschke R., Gimm O., Koch C. A., Gündogdu S., Lucassen A., Tischkowitz M., Izatt L., Aylwin S., Bano G., Hodgson S., De Menis E., Launonen V., Vahteristo P., & Aaltonen L. A. |
Journal | J Clin Endocrinol Metab |
Volume | 92 |
Issue | 8 |
Pagination | 3321-5 |
Date Published | 2007 Aug |
ISSN | 0021-972X |
Keywords | Amino Acid Sequence, Computer Simulation, Cyclin-Dependent Kinase Inhibitor p27, DNA, DNA Mutational Analysis, Germ-Line Mutation, Humans, Immunohistochemistry, Intracellular Signaling Peptides and Proteins, Molecular Sequence Data, Multiple Endocrine Neoplasia Type 1, Reverse Transcriptase Polymerase Chain Reaction |
Abstract | CONTEXT: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients. |
DOI | 10.1210/jc.2006-2843 |
Alternate Journal | J. Clin. Endocrinol. Metab. |
PubMed ID | 17519308 |