Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states.

ABSTRACT:

Context

Germline mutation in the MEN1 gene is the usual cause of multiple endocrine neoplasia type 1 (MEN1). However, the prevalence of identifiable germline MEN1 mutations in familial MEN1 cases is only 70%. Some cases may have a germline mutation in another gene such as the p27 cyclin-dependent kinase inhibitor (CDKI).

Objective

The aim of the study was to investigate cases of MEN1 or related states for germline mutations in all CDKI genes.

Methods

A total of 196 consecutive index cases were selected with clear or suspected MEN1 and no identifiable germline MEN1 mutation. Every case was analyzed for germline mutation in each of the seven CDKI genes.

Results

We identified benign polymorphisms of the CDKI genes and also 15 other initially unclassified sequence

SUBMITTER: Agarwal SK 

PROVIDER: S-EPMC2684477 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature