Mutation Analysis of the Putative Tumor Suppressor Gene PTEN/MMAC1 in Primary Breast Carcinomas

摘要: A novel gene was identified recently at chromosome 10q23, named PTEN or MMAC1, and based on several criteria it designated as a potential human tumor suppressor gene. Loss of heterozygosity affecting this region 10q is observed in cancer types, especially glioblastoma, inactivating mutations the PTEN/MMAC1 are found some these cancers well cell lines xenografts. Breast among types which documented, germline appear to be responsible for rare autosomal dominant familial syndrome known Cowden disease, includes breast its clinical features. To further determine role that may play tumorigenesis, entire coding screened 54 unselected primary cancers. Two were identified, somatic 2-bp deletion an apparently sporadic cancer, germ-line 4-bp patient with history consistent disease. These data indicate PTEN/ MMAC1 occur only small fraction confirm etiology Evidence also presented suggesting numerous polymorphisms missense variants exist transcript.