PTEN/MMAC1 Mutations in Endometrial Cancers

摘要: Endometrial carcinomas represent the most common gynecological cancer in United States, yet molecular genetic events that underlie development of these tumors remain obscure. Chromosome 10 is implicated pathogenesis endometrial carcinoma based on loss heterozygosity (LOH), comparative genomic hybridization, and cytogenetics. Recently, a potential tumor suppressor gene, PTEN/MMAC1 , with homology to dual-specificity phosphatases cytoskeletal proteins tensin auxillin was identified chromosome 10. This gene mutated several types advanced display frequent LOH 10, notably glioblastomas. Additionally, germ-line mutations are responsible for familial neoplastic disorders, including Cowden disease Bannayan-Zonana syndrome. Because this locus included region many carcinomas, we examined 70 alterations . Somatic were detected 24 cases (34%) 21 resulted premature truncation protein, 2 missense conserved phosphatase domain, 1 large insertion. These data indicate more commonly than any other known cancers.