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

N Syeed, SA Husain, S Abdullah… - Asian Pac J Cancer …, 2010 - journal.waocp.org
N Syeed, SA Husain, S Abdullah, AS Sameer, NA Chowdri, MS Nanda, MA Siddiqi
Asian Pac J Cancer Prev, 2010journal.waocp.org
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. Methods: 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 …
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.
Methods
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.
Results
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).
Conclusion
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.
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