Personalized diagnostics through tumor profiling and circulating cell-free DNA : potential applications in colorectal cancer

This study has been designed to assess the value of circulating cell-free DNA (ccf-DNA) as a personalized diagnostic tool for colorectal cancer (CRC). 26, 10, 14 and 11 somatic mutations were identified through exome capture sequencing pipelines, in the tumors of patient 019, 388, 239 and LHS respec...

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Main Author: Lau, Yi Ting
Other Authors: School of Biological Sciences
Format: Final Year Project
Language:English
Published: 2014
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Online Access:http://hdl.handle.net/10356/60619
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Institution: Nanyang Technological University
Language: English
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spelling sg-ntu-dr.10356-606192023-02-28T18:00:39Z Personalized diagnostics through tumor profiling and circulating cell-free DNA : potential applications in colorectal cancer Lau, Yi Ting School of Biological Sciences National Cancer Centre Singapore A*STAR Genome Institute of Singapore Tan Bee Huat Iain DRNTU::Science::Biological sciences::Genetics This study has been designed to assess the value of circulating cell-free DNA (ccf-DNA) as a personalized diagnostic tool for colorectal cancer (CRC). 26, 10, 14 and 11 somatic mutations were identified through exome capture sequencing pipelines, in the tumors of patient 019, 388, 239 and LHS respectively. Patient primary-specific primer (PPS-ctNA) pairs were designed for each variant. Multiplex PCR at optimized conditions, followed by amplicon sequencing was performed on the DNA extracted from plasma, tumor and matched-normal samples from the four CRC patients, using the customized PPS-ctNA pairs. In patient 019, 18 out of 22 calls made by exome sequencing pipelines have been validated through the amplicon sequencing analysis of tumor DNA. 8 out of 18 validated variants were found in the pre-op plasma and none was found in the post-op plasma. The findings suggest that it would be possible to develop a noninvasive blood test that has potential for personalized diagnosis and treatment and for screening of individuals at risk for dissemination and recurrence. However, further work is needed to standardize the conditions for multiplex PCR and sample analysis. Large prospective studies with continuous follow-ups are necessary to integrate ccf-DNA detection assays into the clinical setting. Bachelor of Science in Biological Sciences 2014-05-29T02:49:24Z 2014-05-29T02:49:24Z 2014 2014 Final Year Project (FYP) http://hdl.handle.net/10356/60619 en Nanyang Technological University 36 p. application/pdf
institution Nanyang Technological University
building NTU Library
continent Asia
country Singapore
Singapore
content_provider NTU Library
collection DR-NTU
language English
topic DRNTU::Science::Biological sciences::Genetics
spellingShingle DRNTU::Science::Biological sciences::Genetics
Lau, Yi Ting
Personalized diagnostics through tumor profiling and circulating cell-free DNA : potential applications in colorectal cancer
description This study has been designed to assess the value of circulating cell-free DNA (ccf-DNA) as a personalized diagnostic tool for colorectal cancer (CRC). 26, 10, 14 and 11 somatic mutations were identified through exome capture sequencing pipelines, in the tumors of patient 019, 388, 239 and LHS respectively. Patient primary-specific primer (PPS-ctNA) pairs were designed for each variant. Multiplex PCR at optimized conditions, followed by amplicon sequencing was performed on the DNA extracted from plasma, tumor and matched-normal samples from the four CRC patients, using the customized PPS-ctNA pairs. In patient 019, 18 out of 22 calls made by exome sequencing pipelines have been validated through the amplicon sequencing analysis of tumor DNA. 8 out of 18 validated variants were found in the pre-op plasma and none was found in the post-op plasma. The findings suggest that it would be possible to develop a noninvasive blood test that has potential for personalized diagnosis and treatment and for screening of individuals at risk for dissemination and recurrence. However, further work is needed to standardize the conditions for multiplex PCR and sample analysis. Large prospective studies with continuous follow-ups are necessary to integrate ccf-DNA detection assays into the clinical setting.
author2 School of Biological Sciences
author_facet School of Biological Sciences
Lau, Yi Ting
format Final Year Project
author Lau, Yi Ting
author_sort Lau, Yi Ting
title Personalized diagnostics through tumor profiling and circulating cell-free DNA : potential applications in colorectal cancer
title_short Personalized diagnostics through tumor profiling and circulating cell-free DNA : potential applications in colorectal cancer
title_full Personalized diagnostics through tumor profiling and circulating cell-free DNA : potential applications in colorectal cancer
title_fullStr Personalized diagnostics through tumor profiling and circulating cell-free DNA : potential applications in colorectal cancer
title_full_unstemmed Personalized diagnostics through tumor profiling and circulating cell-free DNA : potential applications in colorectal cancer
title_sort personalized diagnostics through tumor profiling and circulating cell-free dna : potential applications in colorectal cancer
publishDate 2014
url http://hdl.handle.net/10356/60619
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