Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype.
作者： Hiroyuki Yamamoto , Simó Schwartz , Jaume Reventós , Manuel Perucho , Manuel Navarro
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摘要: The majority of tumors from hereditary nonpolyposis colorectal cancer families and a subset unselected gastrointestinal endometrial exhibit microsatellite mutator phenotype (MMP) that leads to the accumulation hundreds thousands clonal mutations in simple repeat sequences. mutated genes with positive or negative roles cell growth survival aneuploid (e.g., APC, K-ras, p53) are less frequently near-diploid MMP tumors. These accumulate other genes, such as DNA mismatch repair hMSH3 hMSH6, transforming factor-beta type II receptor, BAX. All these carry, within their coding sequences, mononucleotide repeats preferred targets for MMP. Endometrial carcinoma is most common extracolonic neoplasia syndrome, but spectrum its target not well characterized. Here, we report also accumulates typically pathway, including BAX (55%), (28%), hMSH6 (17%). We detection frameshift caspase-5, member caspase family proteases has an (A)10 region, endometrium, colon, stomach (28, 62, 44%, respectively). therefore suggest caspase-5 new gene pathway cancer.
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