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Article

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.

Human mutation - 1 Nov 2010

Molatore Sara, Marinoni Ilaria, Lee Misu, Pulz Elke, Ambrosio Maria Rosaria, degli Uberti Ettore C, Zatelli Maria Chiara, Pellegata Natalia S

Abstract excerpt

Multiple endocrine neoplasia (MEN) syndromes are characterized by tumors involving two or more endocrine glands. Two MEN syndromes have long been known: MEN1 and MEN2,caused by germline mutations in MEN1 or RET, respectively. Recently, mutations in CDKN1B,encoding the cyclin-dependent kinase (Cdk) inhibitor p27, were identified in patients having a MEN1-like phenotype but no MEN1 gene mutations. Currently, the...

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Share to Cyclin-Dependent Kinase Inhibitor p27
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20824794
DOI: 10.1002/humu.21354
PMCID: PMC3051264

Genes

MEN1
RET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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