Germline CDKN1B/p27(Kip1) mutation in multiple endocrine neoplasia

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Georgitsi M., Raitila A., Karhu A., van der Luijt R. B., Aalfs C. M., Sane T., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.92, no.8, pp.3321-3325, 2007 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 92 Issue: 8
• Publication Date: 2007
• Doi Number: 10.1210/jc.2006-2843
• Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.3321-3325
• Istanbul University Affiliated: No

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.