Colombino, Maria and Sperlongano, Pasquale and Izzo, Francesco and Tatangelo, Fabiana and Botti, Gerardo and Lombardi, Angela and Accardo, Marina and Tarantino, Luciano and Sordelli, Ignazio M. and Agresti, Massimo and Abbruzzese, Alberto and Caraglia, Michele and Palmieri, Giuseppe (2012) BRAF and PIK3CA genes are somatically mutated in hepatocellular carcinoma among patients from South Italy. Cell Death and Disease, Vol. 3 , e259. eISSN 2041-4889. Article.
Poor data have been previously reported about the mutation rates in K-RAS, BRAF, and PIK3CA genes among patients with hepatocellular carcinoma (HCC). Here we further elucidated the role of these genes in pathogenesis of primary hepatic malignancies. Archival tumour tissue from 65 HCC patients originating from South Italy were screened for mutations in these candidate genes by direct sequencing. Overall, oncogenic mutations were detected in 15 (23%) patients for BRAF gene, 18 (28%) for PIK3CA gene, and 1 (2%) for K-RAS gene. Using statistical analysis, BRAF mutations were significantly correlated with the presence of either multiple HCC nodules (P=0.021) or higher proliferation rates (P=0.034). Although further extensive screenings are awaited in HCC patients among different populations, our findings clearly indicated that mutational activation of both BRAF and PIK3CA genes does contribute to hepatocellular tumorigenesis at somatic level in Southern Italian population.
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