Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue
Tumor tissues from biopsies or surgery are major sources for the next generation sequencing (NGS) study, but these procedures are invasive and have limitation to overcome intratumor heterogeneity. Recent studies have shown that driver alterations in tumor tissues can be detected by liquid biopsy whi...
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| Format: | Article |
| Language: | English |
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BioMed Central
2017-03-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-15-48.pdf |
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| author | Jieun Lee Sung-Min Cho Min Sung Kim Sug Hyung Lee Yeun-Jun Chung Seung-Hyun Jung |
| author_facet | Jieun Lee Sung-Min Cho Min Sung Kim Sug Hyung Lee Yeun-Jun Chung Seung-Hyun Jung |
| author_sort | Jieun Lee |
| collection | DOAJ |
| description | Tumor tissues from biopsies or surgery are major sources for the next generation sequencing (NGS) study, but these procedures are invasive and have limitation to overcome intratumor heterogeneity. Recent studies have shown that driver alterations in tumor tissues can be detected by liquid biopsy which is a less invasive technique capable of both capturing the tumor heterogeneity and overcoming the difficulty in tissue sampling. However, it is still unclear whether the driver alterations in liquid biopsy can be detected by targeted NGS and how those related to the tissue biopsy. In this study, we performed whole-exome sequencing for a breast cancer tissue and identified PTEN p.H259fs*7 frameshift mutation. In the plasma DNA (liquid biopsy) analysis by targeted NGS, the same variant initially identified in the tumor tissue was also detected with low variant allele frequency. This mutation was subsequently validated by digital polymerase chain reaction in liquid biopsy. Our result confirm that driver alterations identified in the tumor tissue were detected in liquid biopsy by targeted NGS as well, and suggest that a higher depth of sequencing coverage is needed for detection of genomic alterations in a liquid biopsy. |
| format | Article |
| id | doaj-art-9216b3fcd18f4a5ca9a95462a7551ef1 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2017-03-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-9216b3fcd18f4a5ca9a95462a7551ef12025-02-02T18:52:13ZengBioMed CentralGenomics & Informatics1598-866X2234-07422017-03-01151485010.5808/GI.2017.15.1.48209Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor TissueJieun Lee0Sung-Min Cho1Min Sung Kim2Sug Hyung Lee3Yeun-Jun Chung4Seung-Hyun Jung5Division of Medical Oncology, Department of Internal Medicine, Seoul St. Mary's Hospital, Seoul 06591, Korea.Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.Cancer Evolution Research Center, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.Tumor tissues from biopsies or surgery are major sources for the next generation sequencing (NGS) study, but these procedures are invasive and have limitation to overcome intratumor heterogeneity. Recent studies have shown that driver alterations in tumor tissues can be detected by liquid biopsy which is a less invasive technique capable of both capturing the tumor heterogeneity and overcoming the difficulty in tissue sampling. However, it is still unclear whether the driver alterations in liquid biopsy can be detected by targeted NGS and how those related to the tissue biopsy. In this study, we performed whole-exome sequencing for a breast cancer tissue and identified PTEN p.H259fs*7 frameshift mutation. In the plasma DNA (liquid biopsy) analysis by targeted NGS, the same variant initially identified in the tumor tissue was also detected with low variant allele frequency. This mutation was subsequently validated by digital polymerase chain reaction in liquid biopsy. Our result confirm that driver alterations identified in the tumor tissue were detected in liquid biopsy by targeted NGS as well, and suggest that a higher depth of sequencing coverage is needed for detection of genomic alterations in a liquid biopsy.http://genominfo.org/upload/pdf/gni-15-48.pdfbreast neoplasmsCDK4 amplificationcirculating tumor DNAliquid biopsynext generation sequencingPTEN mutation |
| spellingShingle | Jieun Lee Sung-Min Cho Min Sung Kim Sug Hyung Lee Yeun-Jun Chung Seung-Hyun Jung Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue Genomics & Informatics breast neoplasms CDK4 amplification circulating tumor DNA liquid biopsy next generation sequencing PTEN mutation |
| title | Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue |
| title_full | Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue |
| title_fullStr | Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue |
| title_full_unstemmed | Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue |
| title_short | Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue |
| title_sort | circulating tumor dna in a breast cancer patient s plasma represents driver alterations in the tumor tissue |
| topic | breast neoplasms CDK4 amplification circulating tumor DNA liquid biopsy next generation sequencing PTEN mutation |
| url | http://genominfo.org/upload/pdf/gni-15-48.pdf |
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