Poor data have been previously reported about the mutation rates inK-RAS,BRAF, andPIK3CAgenes 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 forBRAFgene, 18 (28%) forPIK3CAgene, and 1 (2%) forK-RASgene. Using statistical analysis,BRAFmutations 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 bothBRAFandPIK3CAgenes does contribute to hepatocellular tumorigenesis at somatic level in Southern Italian population.

BRAF and PIK3CA genes are somatically mutated in hepatocellular carcinoma among patients from South Italy / Colombino, Maria; Sperlongano, Pasquale; Izzo, Francesco; Tatangelo, Fabiana; Botti, Gerardo; Lombardi, Angela; Accardo, Marina; Tarantino, Luciano; Sordelli, Ignazio M.; Agresti, Massimo; Caraglia, Michele; Palmieri, Giuseppe; Abbruzzese, Alberto. - 3:(2012). [10.1038/cddis.2011.136]

BRAF and PIK3CA genes are somatically mutated in hepatocellular carcinoma among patients from South Italy

Colombino, Maria;Palmieri, Giuseppe;
2012-01-01

Abstract

Poor data have been previously reported about the mutation rates inK-RAS,BRAF, andPIK3CAgenes 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 forBRAFgene, 18 (28%) forPIK3CAgene, and 1 (2%) forK-RASgene. Using statistical analysis,BRAFmutations 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 bothBRAFandPIK3CAgenes does contribute to hepatocellular tumorigenesis at somatic level in Southern Italian population.
2012
BRAF and PIK3CA genes are somatically mutated in hepatocellular carcinoma among patients from South Italy / Colombino, Maria; Sperlongano, Pasquale; Izzo, Francesco; Tatangelo, Fabiana; Botti, Gerardo; Lombardi, Angela; Accardo, Marina; Tarantino, Luciano; Sordelli, Ignazio M.; Agresti, Massimo; Caraglia, Michele; Palmieri, Giuseppe; Abbruzzese, Alberto. - 3:(2012). [10.1038/cddis.2011.136]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/261558
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