Identification and allelic frequencies of novel single-nucleotide polymorphisms in the DUSP1 and BTG1 genes

Defects in the activity of the PTEN gene, a tumor suppressor, are implicate d in many types of cancer in humans. However, not all mediators of PTEN sig naling pathways have been clarified, and, during efforts to identify such m olecules, we previously induced expression of the DUSP1 and BTG1 genes by i ntroducing exogenous PTEN into endometrial cancer cell lines. In the course of analyzing these two genes for mutations in ovarian carcinomas, we ident ified a novel single-nucleotide polymorphism (SNP) in the DUSP1 gene, and t hree novel SNPs in the BTG1 gene, and we have established their allelic fre quencies in a Japanese population sample. These polymorphic sites will be u seful for detecting losses of heterozygosity (LOH) in tumors and for examin ing latent associations between specific alleles and disease susceptibility .