Mutational Profile of the CAV-1 Gene in Breast Cancer Cases in the Ethnic Kashmiri Population

Abstract

The role of caveolae and the caveolin proteins in cancer has been the subject of extensive research. It has been suggested that Caveolin-1 may contribute to certain steps of carcinogenesis in various types of cancer. Therefore in our study we focused on the potential clinical relevance of Caveolin-1 in 130 malignant breast tissue specimens along with their adjacent normal tissues. Using allele specific PCR we were able to rule out the mutation status of all the samples and then we did the conventional PCR-SSCP and sequencing of the mutated samples along with the normal adjacent tissues. 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. Ten novel Cav-1 mutations (missense and frameshift). We conclude that the gene encoding CAV-1 plays an important role in the promotion of mammary tumorigenesis in Kashmir.