Figure 1

Examples of PPP2R1A mutations. The left two panels (a and c) show mutations detected in exon 5 of case #6, and the right two panels (b and d) show mutations detected in exon 6 of cases #10 and #15. These mutations were tumor-specific. (a and b) DNA derived from non-tumor tissue. (c) DNA derived from tumor tissue samples was examined and a PPP2R1A variant at codon 195 GTG>ATG (V195M) was detected. (d) DNA from tumor tissue was examined and a PPP2R1A variant at codon 238 GAG>AAG (E238K) was detected.