Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status.

摘要: PTEN regulates cell homeostasis by inhibiting growth signals transduced through PI3-kinases. The gene is mutated in several cancer types, but so far, only a limited number of mutations have been reported colorectal cancer. In the present study, direct sequencing was used to analyze whole coding region and exon-intron boundaries series microsatellite stable (n=34) unstable (n=30) carcinomas with known TP53 mutation status. We detected 21 altogether 13 tumors (20%), including 19 sequence two boundaries. Sixteen these alterations not previously Furthermore, seven out altered harbored more than one mutation, potentially leading loss function. Finally, all found were harboring wild-type TP53. conclusion, significant subgroup carcinomas, our findings further extend small spectrum changes. Additionally, it seems that are mutually exclusive for this type.