Common gene mutations between colorectal cancer and colorectal adenoma using next generation sequencing

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Common gene mutations between colorectal cancer and colorectal adenoma using next generation sequencing


Author: Wong, Siu Ping Apple
Title: Common gene mutations between colorectal cancer and colorectal adenoma using next generation sequencing
Degree: M.Sc.
Year: 2014
Subject: Colon (Anatomy) -- Cancer -- Diagnosis.
Sequence Analysis.
Hong Kong Polytechnic University -- Dissertations
Department: Dept. of Health Technology and Informatics
Pages: xi, 60 leaves : color illustrations ; 30 cm
InnoPac Record:
Abstract: Aims: In this project, gene mutations were examined in paraffin embedded specimens of colorectal adenocarcinoma and colorectal adenoma using next generation sequencing. Results obtained from this study may improve the prevention of early CRC development. Background: CRC is the third most frequently diagnosed cancer worldwide, accounting for more than 1 million cases and 600,000 deaths every year. However, CRC is one of the most curable cancers if it is detected at early stage. It is well known that CRC develops from benign adenomas, benign precursor lesions which undergo malignant transformations through a series of genetic and epigenetic deregulations. An adenoma usually takes at least 10 years to become a cancer. Therefore, this long growing period of adenoma allows the removal of it through endoscopic screening programme. Recently, different initiating genes have been found in different CRC categories. Although fecal occult blood test is a simple, cost-effective screening test to screen CRC, it has limited sensitivity and specificity. Thus, in order to identify high-risk adenomas, it will be useful to examine the common genetic aberrations between CRC and colorectal adenoma. Methods: FFPE samples were used and a high throughput Next Generation Sequencer was used to detect the gene mutations in CRC. The library was prepared by the TruSeqAmplicon Cancer Panel Library Preparation Kit (Illumina, USA) according to the manufacturer's protocol. Forty-eight cancer-related genes were targeted with 212 amplicons which covered common mutation hotspots in human cancers. Results: Seven genes were found to be mutated in both CRC and colorectal adenoma but not in their respective adjacent normal epithelial cells. Point mutations of those genes were detected. Conclusion: All these point mutations were detected successfully in colorectal adenoma and CRC, therefore these gene mutations may be potential high risk early CRC markers. These gene mutations will be detected in the plasma of those CRC and colorectal adenoma patients so that the potential of non-invasive detection of CRC and colorectal adenoma, respectively, can be examined in the near future.

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