Sequencing of p53 Gene Mutations in Primary Breast Cancer Tissues / 대한암학회지

ABSTRACT

PURPOSE: The etiology of breast cancer involves very complex factors such as genetic, hormonal, and dietary. The peak age of Korean breast cancer is much earlier, about ten years, than those of western countries. The role of p53 gene on the carcinogenesis has been studied since 1991. This study was designed for the evaluation of genetic factor by determining p53 gene mutations in Korean breast cancer. MATERIALS AND METHODS: Mutation screening on p53 tumor suppressor gene was examined with PCR-SSCP and nucleotide sequencing technique from the genomic DNA extracted from the 27 fresh-frozen breast cancer tissues. RESULTS: Mutations in p53 gene exon 5-7 were identified in 2 of 27 cases (7%). One had a missense mutation substituted gcg with ggg at codon 159, exon 5, and the other had a point mutation substituted tcc serine to tGc cysteine at codon 241, exon 7. CONCLUSION: Point mutation of p53 gene in breast cancer seems to be the major defect found in Korean patients. It is necessary to perform further study in mutation of other exon 2, 4, 8, 9, and 11 of p53 gene to compare the genetic backgrounds of Korean breast cancer with those of westerns.