title: BRAF and PIK3CA genes are somatically mutated in hepatocellular carcinoma among patients from South Italy.
abstract: 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.
authors.affiliation: Institute of Biomolecular Chemistry, National Research Council, Sassari, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Colombino
authors.forename: P
authors.initials: P
authors.lastname: Sperlongano
authors.forename: F
authors.initials: F
authors.lastname: Izzo
authors.forename: F
authors.initials: F
authors.lastname: Tatangelo
authors.forename: G
authors.initials: G
authors.lastname: Botti
authors.forename: A
authors.initials: A
authors.lastname: Lombardi
authors.forename: M
authors.initials: M
authors.lastname: Accardo
authors.forename: L
authors.initials: L
authors.lastname: Tarantino
authors.forename: I
authors.initials: I
authors.lastname: Sordelli
authors.forename: M
authors.initials: M
authors.lastname: Agresti
authors.forename: A
authors.initials: A
authors.lastname: Abbruzzese
authors.forename: M
authors.initials: M
authors.lastname: Caraglia
authors.forename: G
authors.initials: G
authors.lastname: Palmieri
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D006528:Carcinoma, Hepatocellular / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007558:Italy; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D059645:Mutation Rate; D060787:Neoplasm Grading; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D018631:ras Proteins / Q000235:genetics
chemical_list: D019869:Phosphatidylinositol 3-Kinases; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D018631:ras Proteins