Mutational Analysis of 17beta-hydroxysteroid dehydrogenase type 2 gene in Breast Cancers / 한국유방암학회지

ABSTRACT

PURPOSE: The 17beta-hydroxysteroid dehydrogenases(17HSDs) play an important role in the regulation of the physiologic activities of sex steroid hormones. The predominance of 17HSD type 1 in the malignant breast tissue could increase the estrogen-dependent proliferation and stimulate the cancer progression. On the other hand, the oxidative 17HSD type 2 may protect the normal breast cells from an excessive estradiol effect. To identify the role of 17HSD type 2 in the carcinogenesis of breast cancer, we investigate the mutation of 17HSD type 2 in 35 breast cancers. METHODS: We analyzed the entire coding region of the 17 HSD type 2 gene for detection of the somatic mutations in 35 invasive ductal carcinomas of the breast by polymerase chain reaction, single strand conformation polymorphism, and DNA sequencing. RESULTS: We found one missense mutation in exon 6(2.86%). It revealed the CCT-->CTT (Pro-->Leu) transition type at codon 262 in exon 6. CONCLUSION: In present study, we found only a mutation of the 17beta -HSD type 2 gene in breast cancer and could not demonstrate the direct relationship between the mutation of the 17beta -HSD type 2 gene and the development of breast cancer. These results suggest that the mutation of 17HSD type 2 doesn? play a major role in the development of breast cancer.