p53 gene mutations in human endometrial carcinoma

摘要: Although carcinoma of the uterine endometrium is most frequently diagnosed malignancy female reproductive tract, molecular genetic features this tumor have yet to be described in significant detail. Since mutations p53 suppressor gene are single common alteration found human malignancies, we examined hypothesis that occur endometrial carcinoma. Sequencing analysis exons 5-8 revealed point 3 21 (14%) tumors; one mutation was an unusual single-base insertion at codons 176-177, resulting a premature stop codon, whereas other two were CGG----TGG transitions codon 248. Two these tumors showed reduction homozygosity allele, but apparently retained heterozygosity. These data indicate carcinoma, although relatively infrequently, and loss normal allele does not necessarily with type.