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BMC Cancer
Published in: BMC Cancer 1/2011

Open Access 01-12-2011 | Research article

Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma

Authors: Vikram Deshpande, Afamefuna Nduaguba, Stephanie M Zimmerman, Sarah M Kehoe, Laura E MacConaill, Gregory Y Lauwers, Cristina Ferrone, Nabeel Bardeesy, Andrew X Zhu, Aram F Hezel

Published in: BMC Cancer | Issue 1/2011

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Abstract

Background

The genetics of advanced biliary tract cancers (BTC), which encompass intra- and extra-hepatic cholangiocarcinomas as well as gallbladder carcinomas, are heterogeneous and remain to be fully defined.

Methods

To better characterize mutations in established known oncogenes and tumor suppressor genes we tested a mass spectrometric based platform to interrogate common cancer associated mutations across a panel of 77 formalin fixed paraffin embedded archived BTC cases.

Results

Mutations among three genes, KRAS, NRAS and PIK3CA were confirmed in this cohort. Activating mutations in PIK3CA were identified exclusively in GBC (4/32, 12.5%). KRAS mutations were identified in 3 (13%) intra-hepatic cholangiocarcinomas and 1 (33%) perihillar cholangiocarcinoma but were not identified in gallbladder carcinomas and extra-hepatic cholangiocarcinoma.

Conclusions

The presence of activating mutations in PIK3CA specifically in GBC has clinical implications in both the diagnosis of this cancer type, as well as the potential utility of targeted therapies such as PI3 kinase inhibitors.
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Metadata
Title
Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma
Authors
Vikram Deshpande
Afamefuna Nduaguba
Stephanie M Zimmerman
Sarah M Kehoe
Laura E MacConaill
Gregory Y Lauwers
Cristina Ferrone
Nabeel Bardeesy
Andrew X Zhu
Aram F Hezel
Publication date
01-12-2011
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2011
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/1471-2407-11-60

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