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Somatic Mutations of PI3K in Early and Advanced Gallbladder Cancer: Additional Options for an Orphan Cancer

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dc.contributor.author Roa, Iván
dc.contributor.author Gracía, Hernán
dc.contributor.author Game, Anakaren
dc.contributor.author De Toro, Gonzalo
dc.contributor.author De Aretxabala, Xabier
dc.contributor.author Javle, Milind
dc.date.accessioned 2017-01-06T13:42:01Z
dc.date.available 2017-01-06T13:42:01Z
dc.date.issued 2016
dc.identifier.citation Journal of Molecular Diagnostics, May 2016, vol.18,n°3,p.388-394 es_CL
dc.identifier.uri http://dx.doi.org/ 10.1016/j.jmoldx.2015.12.003 es_CL
dc.identifier.uri http://hdl.handle.net/11447/937
dc.description.abstract Gallbladder cancer (GBC) is the second-leading cause of death from malignant tumors in Chilean women. The phosphatidylinositol 3-kinase (PI3K) pathway is involved in proliferation, cell survival, and growth. We investigated mutations in exons 9 and 20 of the PI3K gene in GBC. Mutations in exons 9 (E542K, E545G, E545K) and 20 (H1047L and H1047R) of PI3K were determined by direct sequencing in 130 cases of GBC. The patient group consisted of 110 women and 20 men, and mutations were found in 22 cases (16.9%). Of these, 14 cases had mutations in exon 9 (63.6%) (E542K, 64%; E545K, 29%; and E545G, 7%) and 8 in exon 20 (37.4%; H1047L, 50%; H1047R, 50%). No differences were noted in the frequency and type of mutations analyzed by sex, age, or histologic features. We observed mutations in 22% of the early-stage GBC and 14.6% of the advanced cases. In this series of GBC, 17% of cases were noted as having mutations in either exons 9 or 20 of PI3K. These results suggest that therapeutic testing of inhibitors of the PI3K/AKT pathway may be of benefit in advanced GBC patients es_CL
dc.language.iso en_US es_CL
dc.publisher American Society for Investigative Pathology and the Association for Molecular Pathology by Elsevier es_CL
dc.subject PI3K es_CL
dc.subject Mutation es_CL
dc.subject Gallbladder cancer es_CL
dc.subject Orphan cancer es_CL
dc.title Somatic Mutations of PI3K in Early and Advanced Gallbladder Cancer: Additional Options for an Orphan Cancer es_CL
dc.type Artículo es_CL


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