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Landscape of Actionable Genetic Alterations Profiled from 1,071 Tumor Samples in Korean Cancer Patients

Title
Landscape of Actionable Genetic Alterations Profiled from 1,071 Tumor Samples in Korean Cancer Patients
Authors
Lee, Se-HoonLee, BoramShim, Joon HoLee, Kwang WooYun, Jae WonKim, Sook-YoungKim, Tae-YouKim, Yeul HongKo, Young HyehChung, Hyun CheolYu, Chang SikLee, JeeyunRha, Sun YoungKim, Tae WonJung, Kyung HaeIm, Seock-AhMoon, Hyeong-GonCho, SukkiKang, Jin HyoungKim, JihunKim, Sang KyumRyu, Han SukHa, Sang YunIl Kim, JongChung, Yeun-JunKim, CheolminKim, Hyung-LaePark, Woong-YangNoh, Dong-YoungPark, Keunchil
Ewha Authors
김형래
SCOPUS Author ID
김형래scopus
Issue Date
2019
Journal Title
CANCER RESEARCH AND TREATMENT
ISSN
1598-2998JCR Link

2005-9256JCR Link
Citation
CANCER RESEARCH AND TREATMENT vol. 51, no. 1, pp. 211 - 222
Keywords
Actionable genetic alterationPrecision medicineNext generation sequencingTargeted panel sequencingCancer genomics
Publisher
KOREAN CANCER ASSOCIATION
Indexed
SCIE; SCOPUS; KCI WOS scopus
Document Type
Article
Abstract
Purpose With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data. Materials and Methods To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared. Results We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration. Conclusion In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.
DOI
10.4143/crt.2018.132
Appears in Collections:
의과대학 > 의학과 > Journal papers
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