High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma

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High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma

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Title: High-Throughput Mutation Profiling Identifies Frequent Somatic Mutations in Advanced Gastric Adenocarcinoma
Author: Lee, Jeeyun; van Hummelen, Paul; Go, Christina; Jang, Jiryeon; Park, Joon Oh; Kim, Kyoung-Mee; Palescandolo, Emanuele; Park, Ha Young; Kang, So Young; Kang, Won Ki; MacConaill, Laura Eleanor

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Citation: Lee, Jeeyun, Paul van Hummelen, Christina Go, Emanuele Palescandolo, Jiryeon Jang, Ha Young Park, So Young Kang, Joon Oh Park, Won Ki Kang, Laura MacConaill, and Kyoung-Mee Kim. 2012. High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. PLoS ONE 7(6): e38892.
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Abstract: Background: Gastric cancer is one of the leading cancer types in incidence and mortality, especially in Asia. In order to improve survival, identification of a catalogue of molecular alterations underlying gastric cancer is a critical step for developing and designing genome-directed therapies. Methodology/Principal Findings The Center for Cancer Genome Discovery (CCGD) at the Dana-Farber Cancer Institute (DFCI) has adapted a high-throughput genotyping platform to determine the mutation status of a large panel of known cancer genes. The mutation detection platform, termed OncoMap v4, interrogates 474 “hotspot” mutations in 41 genes that are relevant for cancer. We performed OncoMap v4 in formalin-fixed paraffin-embedded (FFPE) tissue specimens from 237 gastric adenocarcinomas. Using OncoMap v4, we found that 34 (14.4%) of 237 gastric cancer patients harbored mutations. Among mutations we screened, PIK3CA mutations were the most frequent (5.1%) followed by p53 (4.6%), APC (2.5%), STK11 (2.1%), CTNNB1 (1.7%), and CDKN2A (0.8%). Six samples harbored concomitant somatic mutations. Mutations of CTNNB1 were significantly more frequent in EBV-associated gastric carcinoma (P = 0.046). Our study led to the detection of potentially druggable mutations in gastric cancer which may guide novel therapies in subsets of gastric cancer patients. Conclusions/Significance: Using high throughput mutation screening platform, we identified that PIK3CA mutations were the most frequently observed target for gastric adenocarcinoma.
Published Version: doi:10.1371/journal.pone.0038892
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377730/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:10436349
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