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

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.

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DOI: 10.1038/cddis.2011.136


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.

Item Type:Article
ID Code:7010
Uncontrolled Keywords:Hepatocellular carcinoma, cancer genes, mutation analysis, patients’ molecular classification
Subjects:Area 06 - Scienze mediche > MED/08 Anatomia patologica
Divisions:002 Altri enti e centri di ricerca del Nord Sardegna > CNR-Consiglio Nazionale delle Ricerche
Publisher:Nature Publishing Group
Copyright Holders:© 2012 Macmillan Publishers Limited
Deposited On:24 Jan 2012 10:25

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