Caveolin-1 promotes mammary tumorigenesis: mutational profile of the Kashmiri population.

Background: The role of caveolae and the caveolin proteins in cancer has been the subject of extensive research. It has been suggested that caveolin-1 (Cav-1) may contribute to certain steps of carcinogenesis. In the present study we focused on its potential clinical relevance in mammary malignancies.

Methods: We investigated 130 breast cancer samples along with adjacent normal tissues using allele specific PCR for the mutation status and then conventional PCR-SSCP and sequencing of mutated samples along with the normal adjacent tissues.

Results: Caveolin-1 was identified in a screen for genes involved in breast cancer progression and we demonstrated 29.2% mutational status in our Kashmiri ethnic population. We were able to detect 38 mutations out of which 22 were missense, 4 were nonsense, and 12 were frame shifts amongst these 38 we were also able to detect ten novel Cav-1 mutations (missense and frameshift mutations).

Conclusion: We conclude that our study suggests that the gene encoding Cav-1 plays an important role in the promotion of mammary tumorigenesis and are associated with the development and progression of breast cancer.