Duval Alex, Reperant Maryline, Compoint Aurore, Seruca Raquel, Ranzani Guglielmina N, Iacopetta Barry, Hamelin Richard
INSERM U434-CEPH, 75010 Paris, France.
Cancer Res. 2002 Mar 15;62(6):1609-12.
Mutation frequencies at 25 genes containing coding repeats were compared in colorectal, gastric, and endometrial mismatch repair-deficient (MSI-H) tumors. The overall number of mutations was significantly lower in endometrial than in gastrointestinal MSI-H cancers. Using a likelihood statistical method, target genes were divided in each tumor location into two groups likely to represent gene mutations that do or do not provide selective pressures during tumoral progression. Mutation profiles were quite similar in gastric and colorectal MSI-H cancers but were different in endometrial MSI-H tumors. Deletions in Bat-25 and Bat-26 noncoding repeats were also significantly less important in endometrial as compared with gastrointestinal MSI-H tumors. Our results show that the profile of target gene mutations in MSI-H tumors is tissue specific, with both qualitative and quantitative differences between gastrointestinal and endometrial MSI-H cancers.
在结直肠癌、胃癌和子宫内膜错配修复缺陷（MSI-H）肿瘤中，比较了25个含有编码重复序列的基因的突变频率。子宫内膜MSI-H癌症中的总体突变数量显著低于胃肠道MSI-H癌症。使用似然统计方法，将每个肿瘤部位的靶基因分为两组，这两组可能分别代表在肿瘤进展过程中产生或未产生选择压力的基因突变。胃癌和结直肠癌MSI-H癌症的突变谱相当相似，但子宫内膜MSI-H肿瘤的突变谱不同。与胃肠道MSI-H肿瘤相比，Bat-25和Bat-26非编码重复序列中的缺失在子宫内膜中也明显不那么重要。我们的结果表明，MSI-H肿瘤中靶基因突变谱具有组织特异性，胃肠道和子宫内膜MSI-H癌症之间在定性和定量上均存在差异。
