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• W2053086099 abstract "Turcot's syndrome (TS) Is a rare disorder associated with the development of both brain and colon neoplasms. Because of the very low incidence of the disease, its molecular basis remains unclear. Presented is a TS case of a 30-year-old Japanese male with a histopathologically confirmed diagnosis of both brain tumor (glioblastoma multiforme) and colon tumor (well-differentiated adenocar-clnoma). Germline mutations of the p53 gene, somatic mutations of the Ki-ras, p53and APC genes, and microsatel-lite Instability (MSI) was examined using polymerase chain reaction (PCR)-slngle strand conformation polymorphism analysis, followed by PCR-dlrect sequencing, and sequencing after subclonlng. No germline mutations of the p53 gene were found. Somatic mutations of Kl-ras and APC genes were found in the colon adenocarcinoma but not in the brain tumor. No somatic mutation of the pS3 gene was present in either colon or brain tumors. Microsatellite Instability of both colon and brain tumors was positive in two of four loci. These results indicate that the colon tumor of the TS patient carries the Kl-ras and APC gene mutations. The finding of MSI in both the brain and the colon tumors may support the hypothesis that alterations of DNA repair genes are involved in the tumor development of the TS patient." @default.
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• W2053086099 date "1998-02-01" @default.
• W2053086099 modified "2023-09-24" @default.
• W2053086099 title "Genetic alterations in a patient with Turcot's syndrome" @default.
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• W2053086099 doi "https://doi.org/10.1111/j.1440-1827.1998.tb03881.x" @default.
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