Common genetic alterations of SPOP-MATH domain in prostate cancer tissues and association with pathological tumor characteristic.

SPOP gene has a critical role in prostate cancer development and found high mutated in the prostate tumor through various populations. MATH domain represents an important site for SPOP-DNA linkage and other sensitive gene-gene interactions. To investigate the genetic alterations of the MATH domain of SPOP gene in prostate cancer biopsies and correlation with clinical and pathological parameters; DNA samples from 50 prostate cancer tissues were genotyped and confirmed by Sanger sequencing. The frequency and distribution of high frequent mutations were determined and correlated with the patients tumor characteristics. Among 50 samples 34 (68%) were carrying one or more common mutations. Novel frame shift deletion mutation: c.255delA (p.Leu86Phefs) was detected in eight patients (16%), in addition to five novel missense mutations with moderate frequency (6%) namely: c.209G>C (p.Arg70Pro), c.215A>C (p.Asn72Thr), c.334G>A (p.Glu112Lys), c.373T>C (p.Phe125Leu), and c.388G>A (p.Asp130Asn), All missense mutations located in MATH domain. The effects of novel mutations described in the MATH domain are uncertain. No significant differences between carriers and noncarriers of common mutations detected regarding Gleason score, prostate-specific antigen concentration PSA, and tumor stage [p > 0.05]. Clinical significance of mutations detected on prostate tumors progression can be investigated in future analysis. Our findings revealed novel SPOP alterations in prostate cancer tissues probably associated with cancer development.