PCR-SSCP-DNA SEQUENCING METHOD IN DETECTING PTEN GENE MUTATION AND ITS SIGNIFICANCE IN HUMAN BREAST CANCER IN TURKISH POPULATIONS

摘要

The aim of this study was to analyze the possible effect of PTEN gene mutations on the occurrence and development of human breast cancer. PCR-SSCP-DNA sequencing indicated that two kinds of mutation sites were found in 4 out of 80 breast cancer samples. One kind of mutation was found in exons. AA-TCC mutation was located 40 bp upstream of the 3’ lateral exon 2 (115946 AA-TCC). Such mutations led to terminator formation at codon 267 of the PTEN gene. The other mutation was found in an intron, including a C-T point mutation 91 bp upstream of 2’ lateral exon 2 (1903858 C-T). The PTEN protein expression in tissues with breast cancer indicated that the total positive rate of PTEN protein expression was 68 % in breast cancer tissue, which was significantly lower than that (100 %) in paracancerous tissues (P < 0.005). PTEN gene mutation may play an important role in the occurrence and development of breast cancer.