Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.

ABSTRACT:

Context

Among the genomic loci harboring potential candidate genes for prostatic cancer (PCa) is the 2q31-33 chromosomal region that harbors the gene encoding phosphodiesterase 11A (PDE11A). In addition, the combined cancer genome expression metaanalysis datasets included PDE11A among the top 1% down-regulated genes in PCa.

Objective

In the present study, we screened 50 unrelated PCa patients of Brazilian descent for PDE11A coding defects.

Design

The study consisted of PDE11A sequencing, in vitro functional assays, and immunostaining analysis.

Results

We identified eight different sequence alterations in 15 patients (30%): one stop-codon and seven missense mutations. Three of the variants (R202C, Y658C, and E840K) were novel, and the remaining five (Y727C, R804

SUBMITTER: Faucz FR 

PROVIDER: S-EPMC3038491 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature