Of note, compared with patients without SPEN mutant cancer, patients with SPEN mutant cancer harbored more MMR mutant genes (MSH2, 1.97% vs.15.73%; MSH6, 2.08% vs.17.52%; MLH1, 1.67% vs.14.73%; PMS2, 2.55% vs.13.30%; EPCAM, 1.30% vs.5.75% P < 0.0001 for all five genes). The gene discussed is MSH2; the disease is cancer.