Correlation of 53BP1 gene mutation with prostatic adenocarcinoma / 中华病理学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the incidence of 53BP1 gene mutations in prostatic adenocarcinoma and benign prostatic hypertrophy, and to analyze the relationship between 53BP1 mutations and prostatic adenocarcinoma.</p><p><b>METHODS</b>Genomic DNA extraction, PCR amplification and gene sequencing were used to detect the occurrence of 53BP1 gene mutations in 50 cases of prostatic adenocarcinoma. Ten cases of benign prostatic hypertrophy were included as controls.</p><p><b>RESULTS</b>Amongst the 50 cases of prostatic adenocarcinoma studied, 15 showed genetic alterations of 53BP1, including 4 cases with single nucleotide polymorphism. The mutation rate was 24.0% (12/50). Seven of the 53BP1 mutations detected represented missense mutations and none of them were situated in functionally important domains. The other 4 were synonymous mutations, in which c. 4760G > T was situated in Tudor domain. There was no obvious correlation between 53BP1 gene mutations and the various clinicopathologic parameters of prostate adenocarcinoma (P>0.05).</p><p><b>CONCLUSION</b>Certain percentage of prostatic adenocarcinoma harbors 53BP1 mutations which may be involved in the carcinogenesis.</p>