Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients

被引：68

作者：

Nagashima, Takeshi ^{[1
,2
]}

Yamaguchi, Ken ^{[3
]}

Urakami, Kenichi ^{[1
]}

Shimoda, Yuji ^{[1
,2
]}

Ohnami, Sumiko ^{[1
]}

Ohshima, Keiichi ^{[4
]}

Tanabe, Tomoe ^{[1
,2
]}

Naruoka, Akane ^{[5
]}

Kamada, Fukumi ^{[1
]}

Serizawa, Masakuni ^{[5
]}

Hatakeyama, Keiichi ^{[4
]}

Matsumura, Kenya ^{[1
]}

Ohnami, Shumpei ^{[1
]}

Maruyama, Koji ^{[6
]}

Mochizuki, Tohru ^{[4
]}

Kusuhara, Masatoshi ^{[5
,7
]}

Shiomi, Akio ^{[8
]}

Ohde, Yasuhisa ^{[9
]}

Terashima, Masanori ^{[10
]}

Uesaka, Katsuhiko ^{[11
]}

Onitsuka, Tetsuro ^{[12
]}

Nishimura, Seiichiro ^{[13
]}

Hirashima, Yasuyuki ^{[14
]}

Hayashi, Nakamasa ^{[15
]}

Kiyohara, Yoshio ^{[16
]}

Tsubosa, Yasuhiro ^{[17
]}

Katagiri, Hirohisa ^{[18
]}

Niwakawa, Masashi ^{[19
]}

Takahashi, Kaoru ^{[20
]}

Kashiwagi, Hiroya ^{[21
]}

Nakagawa, Masahiro ^{[22
]}

Ishida, Yuji ^{[23
]}

Sugino, Takashi ^{[24
]}

Takahashi, Mitsuru ^{[25
]}

Akiyama, Yasuto ^{[26
]}

机构：

[1] Shizuoka Canc Ctr Res Inst, Canc Diagnost Res Div, Shizuoka, Japan

[2] SRL, Tokyo, Japan

[3] Shizuoka Canc Ctr, Shizuoka, Japan

[4] Shizuoka Canc Ctr Res Inst, Med Genet Div, Shizuoka, Japan

[5] Shizuoka Canc Ctr Res Inst, Drug Discovery & Dev Div, Shizuoka, Japan

[6] Shizuoka Canc Ctr Res Inst, Expt Anim Facil, Shizuoka, Japan

[7] Shizuoka Canc Ctr Res Inst, Reg Resources Div, Shizuoka, Japan

[8] Shizuoka Canc Ctr Hosp, Div Colon & Rectal Surg, Shizuoka, Japan

[9] Shizuoka Canc Ctr Hosp, Div Thorac Surg, Shizuoka, Japan

[10] Shizuoka Canc Ctr Hosp, Div Gastr Surg, Shizuoka, Japan

[11] Shizuoka Canc Ctr Hosp, Div Hepatobiliary Pancreat Surg, Shizuoka, Japan

[12] Shizuoka Canc Ctr Hosp, Div Head & Neck Surg, Shizuoka, Japan

[13] Shizuoka Canc Ctr Hosp, Div Breast Surg, Shizuoka, Japan

[14] Shizuoka Canc Ctr Hosp, Div Gynecol, Shizuoka, Japan

[15] Shizuoka Canc Ctr Hosp, Div Neurosurg, Shizuoka, Japan

[16] Shizuoka Canc Ctr Hosp, Div Dermatol, Shizuoka, Japan

[17] Shizuoka Canc Ctr Hosp, Div Esophageal Surg, Shizuoka, Japan

[18] Shizuoka Canc Ctr Hosp, Div Orthoped Oncol, Shizuoka, Japan

[19] Shizuoka Canc Ctr Hosp, Div Urol, Shizuoka, Japan

[20] Shizuoka Canc Ctr Hosp, Div Breast Oncol Ctr, Shizuoka, Japan

[21] Shizuoka Canc Ctr Hosp, Div Ophthalmol, Shizuoka, Japan

[22] Shizuoka Canc Ctr Hosp, Div Plast & Reconstruct Surg, Shizuoka, Japan

[23] Shizuoka Canc Ctr Hosp, Div Pediat, Shizuoka, Japan

[24] Shizuoka Canc Ctr Hosp, Div Pathol, Shizuoka, Japan

[25] Shizuoka Canc Ctr Hosp, Shizuoka, Japan

[26] Shizuoka Canc Ctr Res Inst, Immunotherapy Div, Shizuoka, Japan

来源：

CANCER SCIENCE | 2020年 / 111卷 / 02期

基金：

日本学术振兴会;

关键词：

actionable alteration; cancer genome; driver alteration; individualized medicine; multi-omics analysis platform; SOMATIC MUTATIONS; DATABASE; VARIANTS; PATHWAYS; GENETICS; GENES; EXOME;

D O I：

10.1111/cas.14290

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

This study aimed to establish the Japanese Cancer Genome Atlas (JCGA) using data from fresh frozen tumor tissues obtained from 5143 Japanese cancer patients, including those with colorectal cancer (31.6%), lung cancer (16.5%), gastric cancer (10.8%) and other cancers (41.1%). The results are part of a single-center study called "High-tech Omics-based Patient Evaluation" or "Project HOPE" conducted at the Shizuoka Cancer Center, Japan. All DNA samples and most RNA samples were analyzed using whole-exome sequencing, cancer gene panel sequencing, fusion gene panel sequencing and microarray gene expression profiling, and the results were annotated using an analysis pipeline termed "Shizuoka Multi-omics Analysis Protocol" developed in-house. Somatic driver alterations were identified in 72.2% of samples in 362 genes (average, 2.3 driver events per sample). Actionable information on drugs that is applicable in the current clinical setting was associated with 11.3% of samples. When including those drugs that are used for investigative purposes, actionable information was assigned to 55.0% of samples. Germline analysis revealed pathogenic mutations in hereditary cancer genes in 9.2% of samples, among which 12.2% were confirmed as pathogenic mutations by confirmatory test. Pathogenic mutations associated with non-cancerous hereditary diseases were detected in 0.4% of samples. Tumor mutation burden (TMB) analysis revealed 5.4% of samples as having the hypermutator phenotype (TMB >= 20). Clonal hematopoiesis was observed in 8.4% of samples. Thus, the JCGA dataset and the analytical procedures constitute a fundamental resource for genomic medicine for Japanese cancer patients.

引用

页码：687 / 699

页数：13

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