研究実績 | 東京大学医学部附属病院ゲノム診療部

最近の研究実績（2023年～）

研究実績（2023年～）
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論文リスト

2025年

2024年

2023年

#01

DNA Methylation in Ovarian and Endometrial Cancers: Predictive and Mechanistic Roles in PARP Inhibitor and ICI Response ▼

Article Type: Review Article

Authors: Kitamura S, Taguchi A, Tamai K, Yamamoto Y, Duong AQ, Yoshimoto D, Mori A, Ishizaka A, Tsuchimochi S, Sone K, Kawazu M, Oda K, Hirota Y

Journal: Cancer Sci

Year: 2025

Status: EPUB Ahead of Print.

Keywords: BRCA1, DNA methylation, immune checkpoint inhibitors, MLH1, PARP inhibitors

DOI: 10.1111/cas.70189

PMID: 40938267

#02

Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan ▼

Article Type: Original Article

Authors: Habano E, Ogawa M, Watanabe K, Akiyama N, Chang H, Ka M, Shinozaki-Ushiku A, Tanabe M, Akahori M, Ichijo T, Tsutsumi S, Tatsuno K, Aburatani H, Kage H, Oda K

Journal: J Hum Genet

Year: 2025

Status: EPUB Ahead of Print.

DOI: 10.1038/s10038-025-01389-z

PMID: 40926019

#03

A Case of Metastatic Castration-Resistant Prostate Cancer With RAD54L Mutation Responding to Niraparib ▼

Article Type: Case Report

Authors: Sato Y, Fujii M, Nakamura A, Tanai C, Yamada Y, Watanabe K, Kage H, Sunami K, Oda K, Kume H.

Journal: IJU Case Reports

Year: 2025

Volume/Issue/Pages: 8(6):578-582

Keywords: genomic medicine, niraparib, poly (ADP-ribose) polymerase inhibitors, precision medicine, prostatic neoplasm

DOI: 10.1002/iju5.70093

PMID: 41185726

#04

Risk Factors and Prognostic Significance of Non-perioperative Atrial Fibrillation in Lung Cancer Patients ▼

Article Type: Original Article

Authors: Oshima T, Akazawa H, Ishida J, Kadowaki H, Shindo A, Ueda T, Amano Y, Watanabe K, Fujiu K, Kage H, Komuro I.

Journal: Circulation Reports

Year: 2025

Status: In press

Keywords: Atrial fibrillation, Body mass index, C-reactive protein, Inflammation, Lung cancer

DOI: 10.1253/circrep.CR-25-0136

PMID: To be assigned

#05

Lung Adenocarcinoma Expressing an EML4-ALK Fusion Transcript With Premature Stop Codons and Response to Alectinib: A Case Report ▼

Article Type: Case Report

Authors: Ozaki M, Ikushima H, Suzuki M, Yokoyama A, Fukuda K, Watanabe K, Shinozaki-Ushiku A, Kato M, Ushiku T, Aburatani H, Oda K, Kage H

Journal: Thorac Cancer

Year: 2025

Volume/Issue/Article Number: 16(15):e70146

Keywords: ALK, case report, comprehensive genomic profiling, lung cancer, RNA-sequencing

DOI: 10.1111/1759-7714.70146

PMID: 40751567

#06

Factors associated with actionable gene aberrations in pancreatic cancer based on the C-CAT database ▼

Article Type: Original Article

Authors: Endo G, Ishigaki K, Nakai Y, Nishio H, Fukuda K, Ishida K, Takaoka S, Tokito Y, Fukuda R, Noguchi K, Oyama H, Suzuki T, Sato T, Saito T, Hamada T, Miyabayashi K, Takahara N, Sato Y, Kage H, Oda K, Fujishiro M

Journal: J Gastroenterol

Year: 2025

Volume/Issue/Pages: 60(8):1026-1035

Keywords: Pancreatic cancer, Comprehensive genomic profiling test, KRAS

DOI: 10.1007/s00535-025-02253-9

PMID: 40314773

#07

First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors: 1-Year Follow-Up of the FIRST-Dx Study ▼

Article Type: Original Article

Authors: Matsubara J, Mukai K, Kondo T, Yoshioka M, Kage H, Oda K, Ikeda S, Ebi H, Muro K, Kajiura S, Hayashi R, Ashida R, Kitano M, Muto M

Journal: Cancer Sci

Year: 2025

Volume/Issue/Pages: 116(7):1908-1919

Keywords: delivery of health care, follow-up studies, molecular targeted therapy, precision medicine, prospective studies

DOI: 10.1111/cas.70077

PMID: 40217582

#08

BRCA1 Promoter Methylation in Ovarian Cancer: Clinical Relevance and a Novel Diagnostic Approach Using Fragment Analysis ▼

Article Type: Original Article

Authors: Tsuchimochi S, Yamamoto Y, Taguchi A, Kawazu M, Sone K, Ikemura M, Tamai K, Kitamura S, Yoshimoto D, Fukaya S, Ishizaka A, Quynh AD, Nishijima A, Miyamoto Y, Mori M, Hiraike O, Hasegawa K, Ushiku T, Oda K, Hirota Y, Osuga Y

Journal: Cancer Sci

Year: 2025

Volume/Issue/Pages: 116(7):1996-2007

Keywords: BRCA1, DNA fragmentation, DNA methylation, homologous recombination deficiency, ovarian cancer

DOI: 10.1111/cas.70078

PMID: 40202107

#09

Real-World Data Analysis of Genomic Alterations Detected by a Dual DNA-RNA Comprehensive Genomic Profiling Test ▼

Article Type: Original Article

Authors: Watanabe K, Ogawa M, Shinozaki-Ushiku A, Tsutsumi S, Tatsuno K, Aburatani H, Kage H, Oda K

Journal: Cancer Sci

Year: 2025

Volume/Issue/Pages: 116(7):1984-1995

Keywords: comprehensive genomic profiling (CGP), gene fusions, NTRK fusions, RNA expression, RNA panel

DOI: 10.1111/cas.70071

PMID: 40140952

#10

Cyclin E1 overexpression sensitizes ovarian cancer cells to WEE1 and PLK1 inhibition ▼

Article Type: Original Article

Authors: Xi Q, Kunita A, Ogawa M, Ka M, Tanimoto S, Tsuchimochi S, Nagai S, Matsunaga A, Fukuda T, Watanabe K, Sone K, Shinozaki-Ushiku A, Kawana K, Ushiku T, Osuga Y, Katayama K, Kage H, Oda K

Journal: Oncogene

Year: 2025

Volume/Issue/Pages: 44(19):1375-1386

DOI: 10.1038/s41388-025-03312-4

PMID: 39994376

#11

Clinical utility of comprehensive genomic profiling in non-small cell lung cancer: An analysis of a nation-wide database ▼

Article Type: Original Article

Authors: Fujii K, Ueki M, Morishita M, Ikushima H, Isago H, Watanabe K, Oda K, Kage H

Journal: Lung Cancer

Year: 2025

Volume/Article Number: 200:108099

Keywords: Companion diagnostics, Comprehensive genomic profiling, Genomic testing, Germline variants, Non-small cell lung cancer

DOI: 10.1016/j.lungcan.2025.108099

PMID: 39842065

#12

BET inhibitor JQ1 induces apoptosis of ovarian and endometrial endometrioid carcinoma cells by downregulating c-Myc ▼

Article Type: Original Article

Authors: Tanimoto S, Sone K, Jonouchi Y, Hachijo R, Suzuki E, Tsuboyama N, Toyohara Y, Inoue F, Honjoh H, Fukuda T, Taguchi A, Miyamoto Y, Iriyama T, Mori M, Asada K, Komatsu M, Kaneko S, Hamamoto R, Wada-Hiraike O, Oda K, Hirota Y, Osuga Y

Journal: Oncol Lett

Year: 2025

Volume/Issue/Article Number: 29(3):106

Keywords: apoptosis, bromodomain and extra‑terminal domain protein, epigenetics, c‑Myc, ovarian endometrioid carcinoma, endometrioid endometrial carcinoma

DOI: 10.3892/ol.2024.14852

PMID: 39736925

#13

Pan-cancer clinical and molecular landscape of MTAP deletion in nationwide and international comprehensive genomic data ▼

Article Type: Original Article

Authors: Ikushima H, Watanabe K, Shinozaki-Ushiku A, Oda K, Kage H

Journal: ESMO Open

Year: 2025

Volume/Issue/Article Number: 10(4):104535

Keywords: comprehensive genomic profiling, explainable artificial intelligence, MTAP, PRMT5, synthetic lethality

DOI: 10.1016/j.esmoop.2025.104535

PMID: 40138743

#14

Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing ▼

Article Type: Original Articcle

Authors: Matsushita K, Ishige T, Watanabe K, Akahane T, Tanimoto A, Yoshimoto M, Yamakuchi M, Hashiguchi T, Okugawa Y, Ikejiri M, Yamaguchi T, Yamasaki T, Takeda M, Hibi M, Akiyama N, Shimizu K, Hashimoto N, Sato H, Tanaka Y, Amari F; EQA working group of Japan Association for Clinical Laboratory Science (JACLS)

Journal: Sci Rep

Year: 2025

Volume/Issue/Article Number: 15(1):1036

Keywords: External quality assessment (EQA), Proficiency testing (PT), Genetic variants, Comprehensive cancer genome testing, NGS

DOI: 10.1038/s41598-024-84714-4

PMID: 39762492

#15

Integrin-α5 expression and its role in non-small cell lung cancer progression ▼

Article Type: Original Article

Authors: Ka M, Matsumoto Y, Ando T, Hinata M, Xi Q, Sugiura Y, Iida T, Nakagawa N, Tokunaga M, Watanabe K, Kawakami M, Ushiku T, Sato M, Oda K, Kage H

Journal: Cancer Sci

Year: 2025

Volume/Issue/Pages: 116(2):406-419

Keywords: adhesion, integrin alpha-5, migration, non-small cell lung cancer, postoperative recurrence

DOI: 10.1111/cas.16416

PMID: 39581761

#16

Association between homologous recombination deficiency and time to treatment failure to platinum-based chemotherapy for pancreatic cancer by using the C-CAT database ▼

Article Type: Original Article

Authors: Ishigaki K, Tokito Y, Takahara N, Nishio H, Endo G, Fukuda K, Ishida K, Fukuda R, Takaoka S, Oyama H, Noguchi K, Suzuki T, Sato T, Saito T, Hamada T, Miyabayashi K, Sato Y, Nakai Y, Kage H, Oda K, Fujishiro M

Journal: J Gastroenterol

Year: 2025

Volume/Issue/Pages: 60(2):247-256

Keywords: Comprehensive genomic profiling, Pancreatic cancer, Homologous recombination deficiency, Chemotherapy

DOI: 10.1007/s00535-024-02173-0

PMID: 39570378

#17

Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy ▼

Article Type: Original Article

Authors: Shimada S, Yamada T, Minamoto A, Matsukawa M, Yabe I, Tada H, Oda K, Ueki A, Higashigawa S, Morikawa M, Sato Y, Hirasawa A, Ogawa M, Kondo T, Yoshioka M, Kanai M, Muto M, Kosugi S

Journal: J Hum Genet

Year: 2025

Volume/Pages: 70:33-40

DOI: 10.1038/s10038-024-01294-x

PMID: 39289525

DNA Methylation in Ovarian and Endometrial Cancers: Predictive and Mechanistic Roles in PARP Inhibitor and ICI Response ▼

Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan ▼

A Case of Metastatic Castration-Resistant Prostate Cancer With RAD54L Mutation Responding to Niraparib ▼

Risk Factors and Prognostic Significance of Non-perioperative Atrial Fibrillation in Lung Cancer Patients ▼

Lung Adenocarcinoma Expressing an EML4-ALK Fusion Transcript With Premature Stop Codons and Response to Alectinib: A Case Report ▼

Factors associated with actionable gene aberrations in pancreatic cancer based on the C-CAT database ▼

First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors: 1-Year Follow-Up of the FIRST-Dx Study ▼

BRCA1 Promoter Methylation in Ovarian Cancer: Clinical Relevance and a Novel Diagnostic Approach Using Fragment Analysis ▼

Real-World Data Analysis of Genomic Alterations Detected by a Dual DNA-RNA Comprehensive Genomic Profiling Test ▼

Cyclin E1 overexpression sensitizes ovarian cancer cells to WEE1 and PLK1 inhibition ▼

Clinical utility of comprehensive genomic profiling in non-small cell lung cancer: An analysis of a nation-wide database ▼

BET inhibitor JQ1 induces apoptosis of ovarian and endometrial endometrioid carcinoma cells by downregulating c-Myc ▼

Pan-cancer clinical and molecular landscape of MTAP deletion in nationwide and international comprehensive genomic data ▼

Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing ▼

Integrin-α5 expression and its role in non-small cell lung cancer progression ▼

Association between homologous recombination deficiency and time to treatment failure to platinum-based chemotherapy for pancreatic cancer by using the C-CAT database ▼

Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy ▼

Molecular classification of ovarian high-grade serous/endometrioid carcinomas through multi-omics analysis: JGOG3025-TR2 study ▼

Association of genetic alterations with prognosis in extramammary Paget disease: insights into the involvement of somatic CDKN2A variants in patients with a poor prognosis ▼

Integrated genomic/epigenomic analysis stratifies subtypes of clear cell ovarian carcinoma, highlighting their cellular origin ▼

Molecular analysis of non-small cell lung cancer using a dual-targeted DNA and RNA comprehensive genomic profiling panel ▼

Comprehensive genomic profiling from C-CAT database unveiled over 80% presence of oncogenic drivers in anaplastic thyroid carcinoma including BRAF, RAS family, NF1, and FGFR1 ▼

Clinical genomic profiling of malignant giant cell tumor of bone: A retrospective analysis using a real-world database ▼

Analysis of quality metrics in comprehensive cancer genomic profiling using a dual DNA-RNA panel ▼

Inhibition of protein arginine methyltransferase 6 activates interferon signaling and induces the apoptosis of endometrial cancer cells via histone modification ▼

Patient survey on cancer genomic medicine in Japan under the national health insurance system ▼

Mutational landscape of advanced extramammary Paget disease with comprehensive genomic profiling tests: A cohort study in a Japanese real-world setting ▼

Identification of target cells of human papillomavirus 18 using squamocolumnar junction organoids ▼

PRKACA/PRKACB Fusions in Pancreatobiliary Intraductal Oncocytic Papillary Neoplasms Including Those With Atypical Morphology: An Analysis of 22 Cases Expanding Morphologic Spectrum ▼

Genomic and Pathologic Profiling of Very Well-Differentiated Gastric Adenocarcinoma of Intestinal Type: A Study With Emphasis on Diffuse-Type Transformation ▼

Pathogenicity Prediction of Gene Fusion in Structural Variations: A Knowledge Graph-Infused Explainable Artificial Intelligence (XAI) Framework ▼

Genomic Landscape of Endometrial, Ovarian, and Cervical Cancers in Japan from the Database in the Center for Cancer Genomics and Advanced Therapeutics ▼

Case report and literature review: exploration of molecular therapeutic targets in recurrent malignant meningioma through comprehensive genetic analysis with Todai OncoPanel ▼

Characterization of a fluorescence imaging probe that exploits metabolic dependency of ovarian clear cell carcinoma ▼

An Attempt to Develop a New Treatment Strategy for Rare Refractory Gynecological Malignancies: The Japanese Gynecologic Oncology Group ▼

TERT promoter mutation positive oral cavity carcinomas, a clinically and genetically distinct subgroup of head and neck squamous cell carcinomas ▼

Survival analysis of high-grade salivary gland carcinoma adjusted for length bias due to delay in comprehensive genomic profiling ▼

First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors for Identification of Targeted Therapy Opportunities ▼

CDK12 alterations and ARID1A mutations are predictors of poor prognosis and therapeutic targets in high-grade salivary gland carcinoma: analysis of the National Genomic Profiling Database ▼

BRAF mutations and concurrent alterations in patients with soft tissue sarcoma ▼

Human resources for administrative work to carry out a comprehensive genomic profiling test in Japan ▼

Homologous recombination inquiry through ovarian malignancy investigations: JGOG3025 Study ▼

Application of organoid culture from HPV18-positive small cell carcinoma of the uterine cervix for precision medicine ▼

A case of refractory pelvic squamous cell carcinoma of unknown primary that responded to nivolumab ▼

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan ▼

Prognostic relevance of HRDness gene expression signature in ovarian high-grade serous carcinoma; JGOG3025-TR2 study ▼

High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer ▼

Cells with stem-like properties are associated with the development of HPV18-positive cervical cancer ▼

Japanese nationwide observational multicenter study of tumor BRCA1/2 variant testing in advanced ovarian cancer ▼

Dramatic response to entrectinib in a patient with malignant peripheral nerve sheath tumor harboring novel SNRNP70-NTRK3 fusion gene ▼

Loss of viral genome with altered immune microenvironment during tumour progression of Epstein-Barr virus-associated gastric carcinoma ▼

Explainable AI for Estimating Pathogenicity of Genetic Variants Using Large-Scale Knowledge Graphs ▼

Clinical and prognostic features of Langerhans cell histiocytosis in adults ▼