Genetic variation of <i>LRRC50</i> in human seminomas.

<p>Genotyping of seminoma (n = 38) samples and a control group (n = 100) revealed several variations. c.919C>G/p.Gln307Glu (rs111472069) is a heterozygous mutation significantly more frequently observed (<i>P</i> = 0.0013) in the seminoma group (5/38 samples) and absent in the control group (0/100 samples). We identified a heterozygous mutation c.1303G>A/p.Asp435Asn (rs149158199), however this mutation is, seemingly less predominant, also identified in the control group and was also identified in one spermatocytic seminoma patient. The known variation c.1769C>T/p.Thr590Met (rs34777958) was identified in one seminoma patient with a monozygotic twin brother that had also developed a seminoma. Both Gln307Glu and the Thr590Met variants are shown to be functional nulls in this study. The positions of the variations are indicated in the protein structure in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003384#pgen-1003384-g003" target="_blank">Figure 3A</a>.