Novel genetic and epigenetic alterations in ... - Ous-research.no

and TAF1B (0.50), ACVR2A and ASTE1 (0.54), PCNXL2 and ACVR2A (0.51), andMRE11A and PTHLH (0.59) showed correlation greater than 0.50 (P = 1.7x10 -7 , 1.6x10 -6 ,2.9x10 -9 , 1.1x10 -7 and 2.6x10 -9 , respectively).Genetic and clinico-pathological associationsNo associations were seen between individual mutation status and tumor stage or gender,except for MSH3 and female gender (P = 0.025) in the test series. Nor when comparing themean number of mutated genes per sample to gender or tumor stage any associations wereseen.Several of the genes show a significant difference in mutation frequency when comparingtumor location, as right-sided MSI tumors often show a higher mutation frequency than leftsidedand especially rectal tumors. ACVR2A, ASTE1, CASP5, MARCKS, MBD4,MRE11A, MSH3, TAF1B and TFGBR2 were all significantly more mutated in right-sidedtumors compared to both left-sided and rectal tumors (Table 1). In addition, PRDM2, BAXand E2F4 showed the same tendency, although not reaching a 5% level of significance (P =0.081, 0.094 and 0.077, respectively). When comparing the mean number of mutations, theright-sided tumors carried a significantly higher number compared to the rectal tumors(mean rank 20.4 and 10.6, respectively, P = 0.008). The association between mutationfrequency and site for the five MSI consensus genes, BAX, IGF2R, MSH3, MSH6 andTGFBR2, are included in another study (Teixeira et al., unpublished).15