Functional analysis of genomic mutations and screening of novel drug, based on comprehensive genomic analysis of muscloskeletal tumors

• Project/Area Number: 17H03596
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Tumor therapeutics
• Research Institution: National Cancer Center Japan (2018-2019); The University of Tokyo (2017)
• Principal Investigator: Hirata Makoto 国立研究開発法人国立がん研究センター, 中央病院, 医員 (50401071)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000); Fiscal Year 2019: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2018: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2017: ¥8,710,000 (Direct Cost: ¥6,700,000、Indirect Cost: ¥2,010,000)
• Keywords: 骨軟部腫瘍 / ゲノム解析 / 機能解析

Outline of Final Research Achievements

We have established Japan Sarcoma Genome Consortium to perform genomic analysis or other multi-omics analysis of muscloskeletal tumors, in which progress of clinical and basic research is delayed due to their variety and rarity. Current study aimed identification of putative drugs by performing functional analysis of genomic alterations which were recurrently detected in previous genomic analysis for muscloskeletal tumors.
Based on the previous analysis, several genomic alterations, identified in some histological subtypes including dedifferentiated liposarcoma, tenosynovial giant cell tumor, and chondrosarcoma, were selected for the following functional analysis. Functional in vitro and in vivo analyses were performed in combination with analysis of previous genomic and clinical data. Putative drugs for each histological subtype have been identified in this project.

Academic Significance and Societal Importance of the Research Achievements

骨軟部腫瘍は組織型が多様で希少であることから、他のがん種と比べて分子標的薬などの新規治療薬開発が遅れている。本研究を実施するにあたり、我々は骨軟部腫瘍ゲノムコンソーシアムを立ち上げ、ゲノム解析を中心としたマルチオミックス解析を実施している。しかし、そうしたゲノム解析で検出される遺伝子異常の詳細な機能解析は実施できておらず、その遺伝子異常の病的意義、治療標的としての位置づけは不明であった。本研究ではそうした遺伝子異常について機能解析を行い、治療標的となるシグナル経路、候補薬剤の選定を推進した。今後、本研究で得られた結果が骨軟部腫瘍の新規治療薬開発に向けた基礎データとなることが期待される。

Research Products

• [Journal Article] Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan (2020)
  • Author(s): Sakaue S, Kanai M, Karjalainen J, Akiyama M, Kurki M, Matoba N, Takahashi A, Hirata M, Kubo M, Matsuda K, Murakami Y; FinnGen, Daly MJ, Kamatani Y, Okada Y
  • Journal Title: Nat Med Volume: 26 Issue: 4 Pages: 542-548
  • DOI: 10.1038/s41591-020-0785-8
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction (2020)
  • Author(s): Sakaue S, Hirata J, Kanai M, Suzuki K, Akiyama M, Lai Too C, Arayssi T, Hammoudeh M, Al Emadi S, Masri BK, Halabi H, Badsha H, Uthman IW, Saxena R, Padyukov L, Hirata M, Matsuda K, Murakami Y, Kamatani Y, Okada Y
  • Journal Title: Nat Commun Volume: 11 Issue: 1 Pages: 1569-1569
  • DOI: 10.1038/s41467-020-15194-z
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (2020)
  • Author(s): Sakai Kensuke、Tanikawa Chizu、Hirasawa Akira、Terao Chikashi、Kamatani Yoichiro、Takahashi Atsushi、Momozawa Yukihide、Hirata Makoto、Kubo Michiaki、Matsuda Koichi
  • Journal Title: Scientific Reports Volume: 10 Issue: 1 Pages: 1024-1024
  • DOI: 10.1038/s41598-020-58066-8
  • NAID: 120006872359
  • Peer Reviewed / Open Access
• [Journal Article] GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits. (2020)
  • Author(s): Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, Ikegawa S, Ikeda M, Iwata N, Hirata M, Matsuda K, Murakami Y, Kubo M, Kamatani Y, Okada Y
  • Journal Title: Nat Hum Behav Volume: 4 Issue: 3 Pages: 308-346
  • DOI: 10.1038/s41562-019-0805-1
  • Peer Reviewed
• [Journal Article] Integrated exome and RNA sequencing of dedifferentiated liposarcoma (2019)
  • Author(s): Hirata Makoto、Matsubara Daisuke (21th) etc
  • Journal Title: Nature Communications Volume: 10 Issue: 1 Pages: 1-12
  • DOI: 10.1038/s41467-019-13286-z
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Associations of autozygosity with a broad range of human phenotypes (2019)
  • Author(s): ClarkDW、Hirata M、Wilson JF、 et al.
  • Journal Title: Nature Communications Volume: 10 Issue: 1 Pages: 4957-4957
  • DOI: 10.1038/s41467-019-12283-6
  • Peer Reviewed / Open Access
• [Journal Article] GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation (2019)
  • Author(s): Terao Chikashi、Momozawa Yukihide、Ishigaki Kazuyoshi、Kawakami Eiryo、Akiyama Masato、Loh Po-Ru、Genovese Giulio、Sugishita Hiroki、Ohta Tazro、Hirata Makoto、Perry John R. B.、Matsuda Koichi、Murakami Yoshinori、Kubo Michiaki、Kamatani Yoichiro
  • Journal Title: Nature Communications Volume: 10 Issue: 1 Pages: 4719-4719
  • DOI: 10.1038/s41467-019-12705-5
  • Peer Reviewed / Open Access
• [Journal Article] Characterizing rare and low-frequency height-associated variants in the Japanese population (2019)
  • Author(s): Akiyama Masato、Hirata Makoto、Kamatani Yoichiro、 et al.
  • Journal Title: Nature Communications Volume: 10 Issue: 1 Pages: 4393-4393
  • DOI: 10.1038/s41467-019-12276-5
  • Peer Reviewed / Open Access
• [Journal Article] Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population (2019)
  • Author(s): Sakaue Saori、Akiyama Masato、Hirata Makoto、Matsuda Koichi、Murakami Yoshinori、Kubo Michiaki、Kamatani Yoichiro、Okada Yukinori
  • Journal Title: European Journal of Human Genetics Volume: 28 Issue: 3 Pages: 378-382
  • DOI: 10.1038/s41431-019-0518-y
  • Peer Reviewed / Open Access
• [Journal Article] GWAS of five gynecologic diseases and cross-trait analysis in Japanese (2019)
  • Author(s): Masuda Tatsuo、Low Siew-Kee、Akiyama Masato、Hirata Makoto、Ueda Yutaka、Matsuda Koichi、Kimura Tadashi、Murakami Yoshinori、Kubo Michiaki、Kamatani Yoichiro、Okada Yukinori
  • Journal Title: European Journal of Human Genetics Volume: 28 Issue: 1 Pages: 95-107
  • DOI: 10.1038/s41431-019-0495-1
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12?366 Controls (2019)
  • Author(s): Momozawa Yukihide、Iwasaki Yusuke、Hirata Makoto、Liu Xiaoxi、Kamatani Yoichiro、Takahashi Atsushi、Sugano Kokichi、Yoshida Teruhiko、Murakami Yoshinori、Matsuda Koichi、Nakagawa Hidewaki、Spurdle Amanda B、Kubo Michiaki
  • Journal Title: JNCI: Journal of the National Cancer Institute Volume: 112 Issue: 4 Pages: 369-376
  • DOI: 10.1093/jnci/djz124
  • Peer Reviewed / Open Access
• [Journal Article] Massively parallel sequencing of tenosynovial giant cell tumors reveals novel CSF1 fusion transcripts and novel somatic CBL mutations (2019)
  • Author(s): Tsuda Yusuke、Matsubara Daisuke (5th) etc
  • Journal Title: International Journal of Cancer Volume: 145 Issue: 12 Pages: 3276-3284
  • DOI: 10.1002/ijc.32421
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture (2019)
  • Author(s): Matoba Nana、Akiyama Masato、Ishigaki Kazuyoshi、Kanai Masahiro、Takahashi Atsushi、Momozawa Yukihide、Ikegawa Shiro、Ikeda Masashi、Iwata Nakao、Hirata Makoto、Matsuda Koichi、Kubo Michiaki、Okada Yukinori、Kamatani Yoichiro
  • Journal Title: Nature Human Behaviour Volume: 3 Issue: 5 Pages: 471-477
  • DOI: 10.1038/s41562-019-0557-y
  • Peer Reviewed / Open Access
• [Journal Article] Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. (2019)
  • Author(s): Nakatochi M, Kanai M, Nakayama A, Hishida A, Kawamura Y, Ichihara S, Akiyama M, Ikezaki H, Furusyo N, Shimizu S, Yamamoto K, et al.
  • Journal Title: Commun Biol. Volume: 2 Issue: 1 Pages: 115-115
  • DOI: 10.1038/s42003-019-0339-0
  • NAID: 120006937615
  • Peer Reviewed / Open Access
• [Journal Article] Multi-ancestry genome-wide gene?smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids (2019)
  • Author(s): Bentley AR, et al.
  • Journal Title: Nature Genetics Volume: 51 Issue: 4 Pages: 636-648
  • DOI: 10.1038/s41588-019-0378-y
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Serum magnesium and calcium levels in relation to ischemic stroke (2019)
  • Author(s): Larsson Susanna C.、Traylor Matthew、Burgess Stephen、Boncoraglio Giorgio B.、Jern Christina、Micha?lsson Karl、Markus Hugh S.、for the MEGASTROKE project of the International Stroke Genetics Consortium
  • Journal Title: Neurology Volume: 92 Issue: 9
  • DOI: 10.1212/wnl.0000000000007001
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. (2019)
  • Author(s): Suzuki K, Akiyama M, Ishigaki K, Kanai M, Hosoe J, Shojima N, Hozawa A, Kadota A, Kuriki K, Naito M, Tanno K, Ishigaki Y, et al.
  • Journal Title: Nat Genet. Volume: 51 Issue: 3 Pages: 379-386
  • DOI: 10.1038/s41588-018-0332-4
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions (2019)
  • Author(s): de Vries PS、Makoto Hirata、Morrison AC、et al.
  • Journal Title: American Journal of Epidemiology Volume: 188 Issue: 6 Pages: 1033-1054
  • DOI: 10.1093/aje/kwz005
  • Peer Reviewed
• [Journal Article] Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population. (2019)
  • Author(s): Hirata J, Hosomichi K, Sakaue S, Kanai M, Nakaoka H, Ishigaki K, Suzuki K, Akiyama M, Kishikawa T, Ogawa K, Masuda T, Yamamoto K, Hirata M, Matsuda K, Momozawa Y, Inoue I, Kubo M, Kamatani Y, Okada Y.
  • Journal Title: Nat Genet Volume: 51 Issue: 3 Pages: 470-480
  • DOI: 10.1038/s41588-018-0336-0
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis (2019)
  • Author(s): Okazaki S, Koizumi A 他26名(27番目)
  • Journal Title: Circulation Volume: 139 Issue: 2 Pages: 295-298
  • DOI: 10.1161/circulationaha.118.038439
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Frequent mutations of genes encoding vacuolar H+ -ATPase components in granular cell tumors. (2019)
  • Author(s): Sekimizu M, Yoshida A, Mitani S, Asano N, Hirata M, Kubo T, Yamazaki F, Sakamoto H, Kato M, Makise N, Mori T, Yamazaki N, Sekine S, Oda I, Watanabe SI, Hiraga H, Yonemoto T, Kawamoto T, Naka N, Funauchi Y, Nishida Y, Honoki K, Kawano H, Tsuchiya H, Kunisada T, Matsuda K, Inagaki K, Kawai A, Ichikawa H.
  • Journal Title: Genes Chromosomes Cancer Volume: 58 Issue: 6 Pages: 373-380
  • DOI: 10.1002/gcc.22727
  • Peer Reviewed / Open Access
• [Journal Article] Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. (2019)
  • Author(s): Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.
  • Journal Title: Nat Commun. Volume: 9 Issue: 1 Pages: 4083-4083
  • DOI: 10.1038/s41467-018-06581-8
  • NAID: 120006949472
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13. 1. (2018)
  • Author(s): Yodsurang V, Tang Y, Takahashi Y, Tanikawa C, Kamatani Y, Takahashi A, Momozawa Y, Fuse N, Sugawara J, Shimizu A, Fukushima A, Hishida A, Furusyo N, Naito M, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Hirata M, Murakami Y, Kubo M, Matsuda K.
  • Journal Title: PLoS One Volume: 13 Issue: 12 Pages: e0209096-e0209096
  • DOI: 10.1371/journal.pone.0209096
  • Peer Reviewed / Open Access
• [Journal Article] Interethnic analyses of blood pressure loci in populations of East Asian and European descent. (2018)
  • Author(s): Takeuchi F, Kohara K, et al.
  • Journal Title: Nat Commun. Volume: 9 Issue: 1 Pages: 5052-5052
  • DOI: 10.1038/s41467-018-07345-0
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21 (2018)
  • Author(s): Tanikawa C, Kamatani Y, Toyoshima O, Sakamoto H, Ito H, Takahashi A, et al.
  • Journal Title: Cancer Science Volume: 109 Issue: 12 Pages: 4015-4024
  • DOI: 10.1111/cas.13815
  • Peer Reviewed / Open Access
• [Journal Article] Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries (2018)
  • Author(s): Feitosa MF、Hirata M、Levy D、et al.
  • Journal Title: PLOS ONE Volume: 13 Issue: 6 Pages: e0198166-e0198166
  • DOI: 10.1371/journal.pone.0198166
  • Peer Reviewed / Open Access
• [Journal Article] Elucidating the genetic architecture of reproductive ageing in the Japanese population (2018)
  • Author(s): Horikoshi Momoko、Day Felix R.、Akiyama Masato、Hirata Makoto、Kamatani Yoichiro、Matsuda Koichi、Ishigaki Kazuyoshi、Kanai Masahiro、Wright Hollis、Toro Carlos A.、Ojeda Sergio R.、Lomniczi Alejandro、Kubo Michiaki、Ong Ken K.、Perry John. R. B.
  • Journal Title: Nature Communications Volume: 9 Issue: 1 Pages: 1977-1977
  • DOI: 10.1038/s41467-018-04398-z
  • NAID: 120006546004
  • Peer Reviewed / Open Access
• [Journal Article] Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma (2018)
  • Author(s): Shiga Yukihiro、Kashiwagi Kenji、Nakazawa Toru、Kubo Michiaki、Japan Glaucoma Society Omics Group (JGS-OG)、NEIGHBORHOOD Consortium
  • Journal Title: Human Molecular Genetics Volume: 27 Issue: 8 Pages: 1486-1496
  • DOI: 10.1093/hmg/ddy053
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases (2018)
  • Author(s): Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y
  • Journal Title: Nat Genet Volume: 50 Issue: 3 Pages: 390-400
  • DOI: 10.1038/s41588-018-0047-6
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Identification of a novel p53 target, COL17A1, that inhibits breast cancer cell migration and invasion (2017)
  • Author(s): Yodsurang Varalee、Tanikawa Chizu、Miyamoto Takafumi、Lo Paulisally Hau Yi、Hirata Makoto、Matsuda Koichi
  • Journal Title: Oncotarget Volume: 8 Issue: 34 Pages: 55790-55803
  • DOI: 10.18632/oncotarget.18433
  • Peer Reviewed / Open Access
• [Journal Article] Genome-wide association study identifies 112 new loci for body mass index in the Japanese population (2017)
  • Author(s): Akiyama M, Okada Y, Kanai M, Takahashi A, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Iwasaki M, Yamaji T, Sawada N, Hachiya T, Tanno K, Shimizu A, Hozawa A, Minegishi N, Tsugane S, Yamamoto M, Kubo M and Kamatani Y
  • Journal Title: Nat Genet Volume: 49 Issue: 10 Pages: 1458-1462
  • DOI: 10.1038/ng.3951
  • Peer Reviewed / Open Access
• [Journal Article] Identification of a p53 target, CD137L, that mediates growth suppression and immune response of osteosarcoma cells (2017)
  • Author(s): Tsuda Y, Tanikawa C, Miyamoto T, Hirata M, Yodsurang V, Zhang YZ, Imoto S, Yamaguchi R, Miyano S, Takayanagi H, Kawano H, Nakagawa H, Tanaka S, Matsuda K
  • Journal Title: Sci Rep Volume: 7(1) Issue: 1 Pages: 10739-10739
  • DOI: 10.1038/s41598-017-11208-x
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Regulation of tubular recycling endosome biogenesis by the p53-MICALL1 pathway (2017)
  • Author(s): Takahashi Yukie、Tanikawa Chizu、Miyamoto Takafumi、Hirata Makoto、Wang Guanxiong、Ueda Koji、Komatsu Tsunehiko、Matsuda Koichi
  • Journal Title: International Journal of Oncology Volume: 51 Issue: 2 Pages: 724-736
  • DOI: 10.3892/ijo.2017.4060
  • Peer Reviewed
• [Journal Article] Argininosuccinate synthase 1 is an intrinsic Akt repressor transactivated by p53 (2017)
  • Author(s): Miyamoto Takafumi、Lo Paulisally Hau Yi、Saichi Naomi、Ueda Koji、Hirata Makoto、Tanikawa Chizu、Matsuda Koichi
  • Journal Title: Science Advances Volume: 3 Issue: 5 Pages: 1603204-1603204
  • DOI: 10.1126/sciadv.1603204
  • Peer Reviewed / Open Access
• [Presentation] NCCオンコパネルを用いたがん遺伝子プロファイリング研究（TOP-GEARプロジェクト第２期）における生殖細胞系列病的バリアント検出症例の特徴 (2019)
  • Author(s): 田辺記子，角南久仁子，市川仁，久保崇 ，加藤護，藤原豊， 下村昭彦，小山隆文，柿島裕樹，北見繭子，清水俊雄，菅野康吉， 平田真，平岡伸介，田村研治，吉田輝彦，藤原康弘，河野隆志 ， 山本昇
  • Organizer: 第17回日本臨床腫瘍学会学術集会
• [Presentation] Precision Medicineに向けて求められるチーム医療 (2019)
  • Author(s): 平田 真、田辺 記子、吉田 輝彦
  • Organizer: 第17回日本臨床腫瘍学会学術集会
  • Invited
• [Presentation] 脱分化型脂肪肉腫119例の網羅的ゲノム解析 (2019)
  • Author(s): 平田 真、浅野 尚文、片山 琴絵、中川 英刀、川井 章、 山口 類、市川 仁、松田 浩一、 骨軟部腫瘍ゲノムコンソーシアム
  • Organizer: 第52回日本整形外科学会骨・軟部腫瘍学術集会
• [Presentation] Integrated Exome and RNA Sequencing of Dedifferentiated Liposarcoma (2019)
  • Author(s): Makoto Hirata, Naofumi Asano, Kotoe Katayama, Hidewaki Nakagawa, Akira Kawai, Rui Yamaguchi, Hitoshi Ichikawa, Koichi Matsuda, Japan Sarcoma Genome Consortium
  • Organizer: 第78回日本癌学会学術総会
• [Presentation] がん関連遺伝子プロファイリング検査における 二次的所見の取り扱い (2019)
  • Author(s): 平田 真
  • Organizer: 第1回遺伝性腫瘍アドバンスドセミナー
  • Invited
• [Presentation] Establishment of Japan Sarcoma Genome Consortium (2019)
  • Author(s): Hirata, Makoto
  • Organizer: Asia - Pacific Scientific Workshop
  • Int'l Joint Research / Invited
• [Presentation] ヒト変異型IDH1/IDH2発現肉腫マウスモデルの確立 (2018)
  • Author(s): 平田 真、Jay Wunder、Benjamin Alman、松田 浩一
  • Organizer: 第13回関東骨軟部腫瘍の基礎を語る会 春のセミナー
• [Presentation] 臨床情報データベースに基づくバイオバンク・ジャパン試料検索システムの構築 (2018)
  • Author(s): 松田 浩一、平田 真、村上 善則
  • Organizer: 第77回日本癌学会学術総会
• [Presentation] NGS時代の遺伝性腫瘍診療の遺伝カウンセリングの現場から (2018)
  • Author(s): 吉田 輝彦、青柳 一彦、牛尼 美年子、後藤 政広、坂本 裕美、田辺 記子、平田 真、菅野 康吉
  • Organizer: 第77回日本癌学会学術総会
• [Presentation] 臨床情報データベースに基づくバイオバンク・ジャパン試料検索システムの構築 (2018)
  • Author(s): 松田 浩一、平田 真、武藤 香織、永井 亜貴子、森崎 隆幸、村上 善則
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] 一郎. 喫煙，飲酒や食生活への遺伝的寄与に基づく多因子疾患との遺伝学的関連の解明 (2018)
  • Author(s): 的場 奈々、秋山 雅人、石垣 和慶、金井 仁弘、高橋 篤、桃沢 幸秀、池川 志郎、池田 匡志、岩田 仲生、平田 真、松田 浩一、久保 充明、岡田 随象、鎌谷 洋一郎
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] Integrated Whole Exome and RNA Sequencing for Dedifferentiated Liposarcoma (2018)
  • Author(s): Hirata M, Asano N, Katayama K, Yamaguchi R, Ichikawa H, Matsuda K、et al.
  • Organizer: CTOS2018
  • Int'l Joint Research
• [Presentation] 脱分化型脂肪肉腫119例の網羅的ゲノム解析 (2018)
  • Author(s): 平田 真、浅野 尚文、片山 琴絵、中川 英刀、川井 章、山口 類、市川 仁、松田 浩一、骨軟部腫瘍ゲノムコンソーシアム
  • Organizer: 第2回日本サルコーマ治療研究学会学術集会
• [Presentation] IDH1/2変異発現マウスを用いた新規内軟骨腫症モデルの検討 (2017)
  • Author(s): 平田 真、Benjamin A. Alman、Jay S. Wunder、松田 浩一
  • Organizer: 第14回 関東骨軟部腫瘍の基礎を語る会 春のセミナー
• [Presentation] 臨床情報データベースに基づくバイオバンク・ジャパン試料検索システムの構築 (2017)
  • Author(s): 平田 真、井元 清哉、湯地 晃一郎、古川 洋一、村上 善則、松田 浩一
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] IDH Mutations and 2HG Levels Predict Survival in Chondrosarcoma. (2017)
  • Author(s): Makoto Hirata, Nalan Gokgoz, Qingxia Wei, Shing Sato, Yuning J Tang, Irene L Andrulis, Benjamin A Alman, Jay S Wunder.
  • Organizer: The 19th International Society of Limb Salvage General Meeting.
  • Int'l Joint Research
• [Presentation] 臨床情報データベースに基づくバイオバンク・ジャパン試料検索システムの構築. (2017)
  • Author(s): 平田 真、井元 清哉、湯地 晃一郎、古川 洋一、村上 善則、松田 浩一
  • Organizer: 第76回 日本癌学会学術総会
• [Book] がん不均一性を理解し、治療抵抗性に挑む／ゲノム解析による骨軟部腫瘍の多様性の解明と治療標的・バイオマーカーの探索 (2018)
  • Author(s): 谷内田 真一
  • Total Pages: 202
  • Publisher: 羊土社
  • ISBN: 9784758103688
• [Book] 骨軟部腫瘍の診断と治療／骨軟部腫瘍ゲノムコンソーシアム (2017)
  • Author(s): 平田 真ほか
  • Total Pages: 552
  • Publisher: アークメディア
  • ISBN: 9784875832164
• [Remarks]
  • URL: https://www.ncc.go.jp/jp/information/pr_release/2019/1212-02/index.html