Polymorphisms of the p53 gene in women with ovarian or endometrial carcinoma

The p53 gene is frequently mutated in various human tumors. Polymorphism is an additional genetic alteration observed in exons and introns of the p53 gene of normal tissues and tumors. Distributions of alleles of three common polymorphisms of the p53 gene; a 16 bp duplication in intron 3, codon 72 o f exon 4 and a sequence in intron 6, were studied in peripheral white blood cells (WBC) of patients with ovarian or endometrial carcinomas. The analys is was performed by PCR and direct sequencing. The 100% linkage observed be tween the most common haplotypes of each polymorphism in healthy subjects w as lower in the patients. A significant difference was observed between fre quencies of genotype and haplotype combinations in patients with ovarian ca rcinoma and endometrial carcinoma. The incidence of heterozygosity was incr eased in ovarian carcinoma and decreased in endometrial carcinoma. Our resu lts suggest that the p53 gene may be involved in susceptibility and predisp osition to various cancers not only by mutations but also by preferential p resentation of polymorphic alleles.