Caveolin-1 Promotes Mammary Tumorigenesis: MutationalProfile of the Kashmiri Population

Abstract

Backgroung: The role of caveolae and the caveolin proteins in cancer has been the subject of extensiveresearch. It has been suggested that caveolin-1 (Cav-1) may contribute to certain steps of carcinogenesis. In thepresent study we focused on its potential clinical relevance in mammary malignancies. <br/><b>Methods</b>: We investigated130 breast cancer samples along with adjacent normal tissues using allele specific PCR for the mutation statusand then conventional PCR-SSCP and sequencing of mutated samples along with the normal adjacent tissues.<br/><b>Results</b>: Caveolin-1 was identified in a screen for genes involved in breast cancer progression and we demonstrated29.2% mutational status in our Kashmiri ethnic population. We were able to detect 38 mutations out of which22 were missense, 4 were nonsense, and 12 were frame shifts amongst these 38 we were also able to detect tennovel Cav-1 mutations (missense and frameshift mutations). <br/><b>Conclusion</b>: We conclude that our study suggeststhat the gene encoding Cav-1 plays an important role in the promotion of mammary tumorigenesis and areassociated with the development and progression of breast cancer.