High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma.
<h4>Background</h4>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-direc...
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Public Library of Science (PLoS)
2012
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oai:doaj.org-article:f36586a82263448bb084f140adf30f8c2021-11-18T07:15:12ZHigh-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma.1932-620310.1371/journal.pone.0038892https://doaj.org/article/f36586a82263448bb084f140adf30f8c2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22723903/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methodology/principal findings</h4>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.<h4>Conclusions/significance</h4>Using high throughput mutation screening platform, we identified that PIK3CA mutations were the most frequently observed target for gastric adenocarcinoma.Jeeyun LeePaul van HummelenChristina GoEmanuele PalescandoloJiryeon JangHa Young ParkSo Young KangJoon Oh ParkWon Ki KangLaura MacConaillKyoung-Mee KimPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 6, p e38892 (2012) |
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Medicine R Science Q Jeeyun Lee Paul van Hummelen Christina Go Emanuele Palescandolo Jiryeon Jang Ha Young Park So Young Kang Joon Oh Park Won Ki Kang Laura MacConaill Kyoung-Mee Kim High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. |
| description |
<h4>Background</h4>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.<h4>Methodology/principal findings</h4>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.<h4>Conclusions/significance</h4>Using high throughput mutation screening platform, we identified that PIK3CA mutations were the most frequently observed target for gastric adenocarcinoma. |
| format |
article |
| author |
Jeeyun Lee Paul van Hummelen Christina Go Emanuele Palescandolo Jiryeon Jang Ha Young Park So Young Kang Joon Oh Park Won Ki Kang Laura MacConaill Kyoung-Mee Kim |
| author_facet |
Jeeyun Lee Paul van Hummelen Christina Go Emanuele Palescandolo Jiryeon Jang Ha Young Park So Young Kang Joon Oh Park Won Ki Kang Laura MacConaill Kyoung-Mee Kim |
| author_sort |
Jeeyun Lee |
| title |
High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. |
| title_short |
High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. |
| title_full |
High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. |
| title_fullStr |
High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. |
| title_full_unstemmed |
High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. |
| title_sort |
high-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/f36586a82263448bb084f140adf30f8c |
| work_keys_str_mv |
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