TY - JOUR JO - Polish Journal of Pathology SN - 1233-9687 VL - 68 IS - 3 PY - 2017 ID - Jo2017 TI - Intratumoral heterogeneity for inactivating frameshift mutation of CUX1 and SIRT1 genes in gastric and colorectal cancers AB - Both CUX1 and SIRT1 are considered tumor suppressor genes (TSGs), but it is not known whether CUX1 and SIRT1 alterations are different between high microsatellite instability (MSI-H) and microsatellite stable MSI (MSS) cancers. We identified frameshift mutations of CUX1 in 4 cases of colorectal cancer (CRC) and of SIRT1 in 1 case of gastric cancer (GC) and 3 cases of CRC. All of them were found in GC or CRC with MSI-H (3.5% of MSI-H for each gene), but neither in GC nor CRC with MSS. In addition, we analyzed intratumoral heterogeneity (ITH) of the CUX1 frameshift mutation and found that two CRCs (12.5%) harbored regional ITH of the frameshift mutation. Our data indicate that there exist frameshift mutations of CUX1 and SIRT1 genes as well as ITH of CUX1 frameshift mutation in MSI-H cancers, which together might play a role in tumorigenesis of GC and CRC with MSI-H. AU - Jo, Yun Sol AU - Kim, Min Sung AU - Yoo, Nam Jin AU - Lee, Sug Hyung SP - 258 EP - 260 DA - 2017 DO - 10.5114/pjp.2017.71534 UR - http://dx.doi.org/10.5114/pjp.2017.71534 ER -