PMS2 and cancer: Documented effects of such insertions include: (1) deletions of endogenous gene sequences, as in NF1 (Vogt et al., 2014) and the promoter of FUS (Savage et al., 2013); (2) insertions associated with cancer (Szpakowski et al., 2009); (3) altered splicing, including exon skipping (SPTA1, BTK); (4) exonization of SVA into transcripts, which then become out-of-frame and dysfunctional (FKTN, ARH, LDLRAP1, PNPLA2, PMS2; Kwon et al., 2013; Hancks et al., 2009); and (5) transcription of SVA sequences driven by internal retrotransposon elements (Hancks and Kazazian, 2010).