Genetic variation of LRRC50 in human seminomas.

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 (P = 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 Figure 3A.