Landscape of actionable genetic alterations profiled from 1,071 tumor samples in Korean cancer patients

Cited 8 time in Web of Science Cited 10 time in Scopus

Lee, Se-Hoon; Lee, Boram; Shim, Joon Ho; Lee, Kwang Woo; Yun, Jae Won; Kim, Sook-Young; Kim, Tae-You; Kim, Yeul Hong; Ko, Young Hyeh; Chung, Hyun Cheol; Yu, Chang Sik; Lee, Jeeyun; Rha, Sun Young; Kim, Tae Won; Jung, Kyung Hae; Im, Seock-Ah; Moon, Hyeong-Gon; Cho, Sukki; Kang, Jin Hyoung; Kim, Jihun; KIm, SA; Ryu, Han Suk; Ha, Sang Yun; Kim, Jong Il; Chung, Yeun-Jun; Kim, Cheolmin; Kim, Hyung-Lae; Park, Woong-Yang; Noh, Dong-Young; Park, Keunchil]

Issue Date
Cancer Research and Treatment, Vol.51 No.1, pp.211-222
Actionable genetic alterationPrecision medicineNext generation sequencingTargeted panel sequencingCancer genomics
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.
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College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
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