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Efficient construction method for phase diagrams using uncertainty sampling

Physical Review Materials 2019年第3期3卷 033802-033802页

作者： Kei Terayama Ryo Tamura Yoshitaro Nose Hidenori Hiramatsu Hideo Hosono Yasushi Okuno Koji Tsuda RIKEN Center for Advanced Intelligence Project Tokyo 103-0027 Japan Medical Sciences Innovation Hub Program RIKEN Cluster for Science Technology and Innovation Hub Kanagawa 230-0045 Japan Graduate School of Medicine Kyoto University Kyoto 606-8507 Japan International Center for Materials Nanoarchitectonics (WPI-MANA) National Institute for Materials Science Ibaraki 305-0044 Japan Research and Services Division of Materials Data and Integrated System National Institute for Materials Science Ibaraki 305-0047 Japan Graduate School of Frontier Sciences University of Tokyo Chiba 277-8568 Japan Department of Materials Science and Engineering Kyoto University Kyoto 606-8501 Japan Laboratory for Materials and Structures Institute of Innovative Research Tokyo Institute of Technology Yokohama 226-8503 Japan Materials Research Center for Element Strategy Tokyo Institute of Technology Yokohama 226-8503 Japan

We develop a method to efficiently construct phase diagrams using machine learning. Uncertainty sampling (US) in active learning is utilized to intensively sample around phase boundaries. Here, we demonstrate constructions of three known experimental phase diagrams by the US approach. Compared with random sampling, the US approach decreases the number of sampling points to about 20%. In particular, the reduction rate is pronounced in more complicated phase diagrams. Furthermore, we show that using the US approach, undetected new phases can be rapidly found, and smaller numbers of initial sampling points are sufficient. Thus, we conclude that the US approach is useful to construct complicated phase diagrams from scratch and will be an essential tool in materials science.

关键词： Phase diagrams

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Fine-grained optimization method for crystal structure prediction

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npj Computational Materials 2018年第1期4卷 379-386页

作者： Kei Terayama Tomoki Yamashita Tamio Oguchi Koji Tsuda Graduate school of Frontier Sciences the University of Tokyo5-1-5Kashiwa-no-haKashiwaChibaJapan RIKEN Center for Advanced Intelligence Project 1-4-1 NihonbashiChuo-kuTokyo 103-0027Japan Graduate school of Medicine Kyoto UniversityYoshida-Konoe-choSakyo-kuKyoto 606-8507Japan Center for Materials research by Information Integration Research and ServicesDivision of Materials Data and Integrated SystemNational Institute for MaterialsScience1-2-1 SengenTsukubaIbaraki 305-0047Japan Institute of Scientific and Industrial Research Osaka University8-1 MihogaokaIbarakiOsaka 567-0047Japan

Crystal structure prediction based on first-principles calculations is often achieved by applying relaxation to randomly generated initial *** a structure requires multiple optimization *** is time consuming to fully relax all the initial structures,but it is difficult to figure out which initial structure leads to the optimal solution in *** this paper,we propose a optimization method for crystal structure prediction,called Look Ahead based on Quadratic Approximation,that optimally assigns optimization steps to each candidate *** allows us to identify the most stable structure with a minimum number of total local optimization *** simulations using known systems Si,NaCl,Y_(2)Co_(17),Al_(2)O_(3),and GaAs showed that the computational cost can be reduced significantly compared to random *** method can be applied for controlling all kinds of local optimizations based on first-principles calculations to obtain best results under restricted computational resources.

关键词： structure grain optimization

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Correlation between Electrolyte Chemistry and Solid Electrolyte Interphase for Reversible Ca Metal Anodes

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Angewandte Chemie 2022年第50期134卷

作者： Dr. Zhen Hou Rui Zhou Yunduo Yao Zhiwen Min Dr. Ziheng Lu Prof. Ye Zhu Prof. Jean-Marie Tarascon Prof. Biao Zhang Department of Applied Physics & Research Institute for Smart Energy The Hong Kong Polytechnic University Hung Hom Hong Kong China Contribution: Conceptualization (equal) Data curation (lead) Formal analysis (lead) Investigation (lead) Methodology (equal) Validation (equal) Visualization (equal) Writing - original draft (lead) Writing - review & editing (equal) Contribution: Investigation (supporting) Shenzhen Institutes of Advanced Technology Chinese Academy of Sciences Shenzhen 518055 China Contribution: Software (supporting) Microsoft Research AI4Science Beijing 100080 China Contribution: Software (lead) Writing - review & editing (supporting) Chimie du Solide-Energie UMR 8260 Collège de France Paris France Contribution: Writing - review & editing (equal) Contribution: Conceptualization (equal) Funding acquisition (lead) Methodology (equal) Project administration (lead) Resources (lead) Supervision (lead) Validation (equal) Writing - review & editing (equal)

The development of rechargeable Ca metal batteries (RCMBs) is hindered by the Ca 2+ passivating solid electrolyte interphases (SEIs). The cation solvation structure dictated by electrolyte chemistry plays a critical role in the SEIs properties. While a relatively weak cation-solvent binding is preferred in Li metal anodes to promote anion-derived SEIs, we demonstrate an enhanced Ca deposition/stripping reversibility under a strong cation-solvent interaction, which is materialized in strongly-solvating solvent and highly-dissociated salt combinations. Such electrolyte formulations benefit the formation of solvent-occupied solvation structure and minimize the anion reduction, resulting in organic-rich/CaF 2 -poor SEIs for reversible Ca metal anodes. Furthermore, RCMBs paired with an organic cathode using the optimized electrolytes are demonstrated as a proof-of-concept. Our work reveals the paradigm shift in SEIs design for Ca metal anodes, opening up new opportunities for emerging RCMBs.

关键词： Ca Deposition/Stripping Electrolyte Formulation Solid Electrolyte Interphase Solvation Structure

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Expanding the horizon of automated metamaterials discovery via quantum annealing

arXiv

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arXiv 2019年

作者： Kitai, Koki Guo, Jiang Ju, Shenghong Tanaka, Shu Tsuda, Koji Shiomi, Junichiro Tamura, Ryo Graduate School of Frontier Sciences University of Tokyo Chiba277-8568 Japan Department of Mechanical Engineering University of Tokyo Tokyo113-8654 Japan Research and Services Division of Materials Data and Integrated System National Institute for Materials Science Ibaraki305-0047 Japan Green Computing Systems Research Organization Waseda University Tokyo162-0042 Japan JST PRESTO Saitama332-0012 Japan RIKEN Center for Advanced Intelligence Project Tokyo103-0027 Japan International Center for Materials Nanoarchitectonics National Institute for Materials Science Ibaraki305-0044 Japan

Complexity of materials designed by machine learning is currently limited by the inefficiency of classical computers. We show how quantum annealing can be incorporated into automated materials discovery and conduct a proof-of-principle study on designing complex thermofunctional metamaterials consisting of SiO2, SiC, and Poly(methyl methacrylate). Empirical computing time of our quantum-classical hybrid algorithm involving a factorization machine, a rigorous coupled wave analysis, and a D-Wave 2000Q quantum annealer was insensitive to the problem size, while a classical counterpart experienced rapid increase. Our method was used to design complex structures of wavelength selective radiators showing much better concordance with the thermal atmospheric transparency window in comparison to existing human-designed alternatives. Our result shows that quantum annealing provides scientists gigantic computational power that may change how materials are designed. Copyright © 2019, The Authors. All rights reserved.

关键词： Metamaterials

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Optimization of heterogeneous ternary Li3PO4-Li3BO3-Li2SO4 mixture for Li-ion conductivity by machine learning

arXiv

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arXiv 2019年

作者： Homma, Kenji Liu, Yu Sumita, Masato Tamura, Ryo Fushimi, Naoki Iwata, Junichi Tsuda, Koji Kaneta, Chioko Fujitsu Laboratories Ltd. 10-1 Morinosato-Wakamiya Atsugi243-0197 Japan Centre for Advanced Intelligence Project RIKEN 1-4-1 Nihombashi Chuo-ku Tokyo103-0027 Japan National Institute for Materials Science 1-1 Namiki Tsukuba Ibaraki305-0044 Japan Graduate School of Frontier Sciences University of Tokyo 5-1-5 Kashiwa-no-ha Kashiwa Chiba277-8561 Japan Research and Services Division of Materials Data and Integrated System National Institute for Materials Science 1-2-1 Sengen Tsukuba Ibaraki305-0047 Japan

Mixing heterogeneous Li-ion conductive materials is one of potential ways to enhance the Li-ion conductivity more than that of the parent materials. However, the development of the mixtures had not exhibited significant progress because it is a formidable task to cover the vast possible composition of the parent materials using traditional ways. Here, we introduce a fashion based on machine learning to optimize the composition ratio of ternary Li3PO4-Li3BO3-Li2SO4 mixture for its Li-ion conductivity. According to our results, the optimum composition of the ternary mixture system is 25:14:61 (Li3PO4: Li3BO3: Li2SO4 in mol%), whose Li-ion conductivity is measured as 4.9 × 10-4 S/cm at 300 °C. Our X-ray structure analysis indicates that Li-ion conductivity in the mixing systems is enhanced by virtue of the coexistence of two or more phases. Although the mechanism enhancing Li-ion conductivity is not simple, our results demonstrate the effectiveness of machine learning for the development of materials. Copyright © 2019, The Authors. All rights reserved.

关键词： Solid state reactions

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Global cross-cultural validation of a brief measure for identifying potential suicide risk in 42 countries

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Public Health 2024年 229卷 13-23页

作者： Gewirtz-Meydan, A. Koós, M. Nagy, L. Kraus, S.W. Demetrovics, Z. Potenza, M.N. Ballester-Arnal, R. Batthyány, D. Bergeron, S. Billieux, J. Burkauskas, J. Cárdenas-López, G. Carvalho, J. Castro-Calvo, J. Chen, L. Ciocca, G. Corazza, O. Csako, R. Fernandez, D.P. Fujiwara, H. Fernandez, E.F. Fuss, J. Gabrhelík, R. Gjoneska, B. Gola, M. Grubbs, J.B. Hashim, H.T. Islam, M.S. Ismail, M. Jiménez-Martínez, M.C. Jurin, T. Kalina, O. Klein, V. Költő, A. Lee, S.-K. Lewczuk, K. Lin, C.-Y. Lochner, C. López-Alvarado, S. Lukavská, K. Mayta-Tristán, P. Miller, D.J. Orosová, O. Orosz, G. Ponce, F.P. Quintana, G.R. Quintero Garzola, G.C. Ramos-Diaz, J. Rigaud, K. Rousseau, A. De Tubino Scanavino, M. Schulmeyer, M.K. Sharan, P. Shibata, M. Shoib, S. Sigre-Leirós, V. Sniewski, L. Spasovski, O. Steibliene, V. Stein, D.J. Strong, C. Ünsal, B.C. Vaillancourt-Morel, M.-P. Van Hout, M.C. Bőthe, B. School of Social Work Faculty of Social Welfare and Health Sciences University of Haifa Israel Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary Institute of Forensic Psychiatry and Sex Research University of Duisburg-Essen Essen Germany Doctoral School of Psychology ELTE Eötvös Loránd University Budapest Hungary Department of Psychology University of Nevada Las Vegas Las Vegas NV United States Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar Gibraltar Yale University School of Medicine New Haven CT United States Connecticut Council on Problem Gambling Wethersfield CT United States Departmento de Psicología Básica Clínica y Psicobiología University Jaume I of Castellón Spain Institute for Behavioural Addictions Sigmund Freud University Vienna Austria Département de Psychologie Université de Montréal Montréal Canada Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland Laboratory of Behavioral Medicine Neuroscience Institute Lithuanian University of Health Sciences Lithuania Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico William James Center for Research Departamento de Educação e Psicologia Universidade de Aveiro Aveiro Portugal Department of Personality Assessment and Psychological Treatments University of Valencia Spain Department of Psychology College of Humanity and Social Science Fuzhou University China Section of Sexual Psychopathology Department of Dynamic and Clinical Psychology and Health Studies Sapienza University of Rome Rome Italy Department of Clinical Pharmaceutical and Biological Sciences University of Hertfordshire United Kingdom Department of Psychology and Cognitive Science University of Trento Italy Department of Psychology and Neuroscience Auckland University of Technology Auckland New Z

Objectives: This study aimed to examine the psychometric properties of the P4 suicide screener in a multinational sample. The primary goal was to evaluate the reliability and validity of the scale and investigate its convergent validity by analyzing its correlation with depression, anxiety, and substance use. Study design: The study design is a cross-sectional self-report study conducted across 42 countries. Methods: A cross-sectional, self-report study was conducted in 42 countries, with a total of 82,243 participants included in the final data set. Results: The study provides an overview of suicide ideation rates across 42 countries and confirms the structural validity of the P4 screener. The findings indicated that sexual and gender minority individuals exhibited higher rates of suicidal ideation. The P4 screener showed adequate reliability, convergence, and discriminant validity, and a cutoff score of 1 is recommended to identify individuals at risk of suicidal behavior. Conclusions: The study supports the reliability and validity of the P4 suicide screener across 42 diverse countries, highlighting the importance of using a cross-cultural suicide risk assessment to standardize the identification of high-risk individuals and tailoring culturally sensitive suicide prevention strategies. © 2024 The Royal Society for Public Health

关键词： Assessment Cross-cultural Suicide Validation

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The eleven-item Alcohol, Smoking and Substance Involvement Screening Test (ASSIST-11): Cross-cultural psychometric evaluation across 42 countries

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Journal of Psychiatric Research 2023年第1期165卷 16-27页

作者： Lee, Chih-Ting Lin, Chung-Ying Koós, Mónika Nagy, Léna Kraus, Shane W. Demetrovics, Zsolt Potenza, Marc N. Ballester-Arnal, Rafael Batthyány, Dominik Bergeron, Sophie Billieux, Joël Burkauskas, Julius Cárdenas-López, Georgina Carvalho, Joana Castro-Calvo, Jesús Chen, Lijun Ciocca, Giacomo Corazza, Ornella Csako, Rita I. Fernandez, David P. Fernandez, Elaine F. Fujiwara, Hironobu Fuss, Johannes Gabrhelík, Roman Gewirtz-Meydan, Ateret Gjoneska, Biljana Gola, Mateusz Grubbs, Joshua B. Hashim, Hashim T. Islam, Md. Saiful Ismail, Mustafa Jiménez-Martínez, Martha Jurin, Tanja Kalina, Ondrej Klein, Verena Költő, András Lee, Sang-Kyu Lewczuk, Karol Lochner, Christine López-Alvarado, Silvia Lukavská, Kateřina Mayta-Tristán, Percy Milea, Ionut Miller, Dan J. Orosová, Oľga Orosz, Gábor Ponce, Fernando P. Quintana, Gonzalo R. Garzola, Gabriel C.Quintero Ramos-Diaz, Jano Rigaud, Kévin Rousseau, Ann Scanavino, Marco De Tubino Schulmeyer, Marion K. Sharan, Pratap Shibata, Mami Shoib, Sheikh Sigre-Leirós, Vera Sniewski, Luke Spasovski, Ognen Steibliene, Vesta Stein, Dan J. Strizek, Julian Ünsal, Berk C. Vaillancourt-Morel, Marie-Pier Van Hout, Marie Claire Bőthe, Beáta Department of Family Medicine National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan Institute of Allied Health Sciences College of Medicine National Cheng Kung University Tainan Taiwan Biostatistics Consulting Center National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan Doctoral School of Psychology ELTE Eötvös Loránd University Budapest Hungary Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary Department of Psychology University of Nevada Las Vegas Las Vegas NV United States Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar Gibraltar Yale University School of Medicine New Haven CT United States Connecticut Council on Problem Gambling Wethersfield CT United States Departmento de Psicología Básica Clínica y Psicobiología University Jaume I of Castellón Spain Institute for Behavioural Addictions Sigmund Freud University Vienna Austria Département de Psychologie Université de Montréal Montréal Canada Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland Laboratory of Behavioral Medicine Neuroscience Institute Lithuanian University of Health Sciences Lithuania Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico William James Center for Research Departamento de Educação e Psicologia Universidade de Aveiro CPUP: Center for Psychology at Porto University Aveiro Portugal Department of Personality Assessment and Psychological Treatments University of Valencia Spain Department of Psychology College of Humanity and Social Science Fuzhou University China Section of Sexual Psychopathology Department of Dynamic and Clinical Psychology and Health Studies Sapienza University of Rome Rome Italy Department of Clinical Pharmaceuti

The Alcohol, Smoking and Substance Involvement Screening Test (ASSIST) is an instrument to screen substance-use-related health risks. However, little is known whether the ASSIST could be further shortened while remaining psychometrically sound across different countries, languages, gender identities, and sexual-orientation-based groups. The study aimed to validate a shortened 11-item ASSIST (ASSIST-11). Using the International Sex Survey data, 82,243 participants (M _age = 32.39 years) across 42 countries and 26 languages completed questions from the ASSIST-11 regarding gender identity, sexual orientation, and other information. Confirmatory factor analysis (CFA) and multigroup CFA (MGCFA) evaluated the ASSIST-11's structure and tested measurement invariance across groups. Cronbach's α and McDonald's ω were used to examine the internal consistency. Cohen's d and independent t-tests were used to examine known-group validity. The ASSIST-11 was unidimensional across countries, languages, age groups, gender identities (i.e., men, women, and gender-diverse individuals), and sexual orientations (i.e., heterosexual and sexual minority individuals). Cronbach's α was 0.63 and McDonald's ω was 0.68 for the ASSIST-11. Known-group validity was supported by Cohen's d (range between 0.23 and 0.40) with significant differences (p-values<0.001). The ASSIST-11 is a modified instrument with a unidimensional factor structure across different languages, age groups, countries, gender identities, and sexual orientations. The low internal consistency of the ASSIST-11 might be acceptable as it assesses a broad concept (i.e., use of several different substances). Healthcare providers and researchers may use the ASSIST-11 to quickly assess substance-use information from general populations and evaluate the need to follow up with more detailed questions about substance use. © 2023 Elsevier Ltd

关键词： Addictive behaviors Cross-cultural study Factor structure Measurement invariance Psychometrics

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Author Correction: Sexually dimorphic estrogen sensing in skeletal stem cells controls skeletal regeneration

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Nature communications 2024年第1期15卷 8030页

作者： Tom W Andrew Lauren S Koepke Yuting Wang Michael Lopez Holly Steininger Danielle Struck Tatiana Boyko Thomas H Ambrosi Xinming Tong Yuxi Sun Gunsagar S Gulati Matthew P Murphy Owen Marecic Ruth Tevlin Katharina Schallmoser Dirk Strunk Jun Seita Stuart B Goodman Fan Yang Michael T Longaker George P Yang Charles K F Chan Department of Surgery Stanford University School of Medicine Stanford CA 94305 USA. Institute for Stem Cell Biology and Regenerative Medicine Stanford University School of Medicine Stanford CA 94305 USA. Department of Orthopaedic Surgery Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China. Department of Bioengineering Stanford University Palo Alto CA 94305 USA. Department of Surgery University of Alabama at Birmingham Birmingham AL 35233 USA. Birmingham VA Medical Center Birmingham AL 35233 USA. Division of Plastic and Reconstructive Surgery Stanford Hospital and Clinics Palo Alto CA USA. Spinal Cord Injury and Tissue Regeneration Center Salzburg (SCI-TReCS) Department for Transfusion Medicine Paracelsus Medical University of Salzburg Salzburg Austria. Cell Therapy Institute Paracelsus Medical University of Salzburg Salzburg Austria. Center for Integrative Medical Sciences and Advanced Data Science Project RIKEN Tokyo Japan. Department of Orthopedic Surgery Stanford University Palo Alto CA 94305 USA. Department of Surgery University of Alabama at Birmingham Birmingham AL 35233 USA. gyang@uabmc.edu. Birmingham VA Medical Center Birmingham AL 35233 USA. gyang@uabmc.edu. Department of Surgery Stanford University School of Medicine Stanford CA 94305 USA. chazchan@stanford.edu. Institute for Stem Cell Biology and Regenerative Medicine Stanford University School of Medicine Stanford CA 94305 USA. chazchan@stanford.edu.

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Modulating Ligand-Exchange Dynamics on Metal-Organic Polyhedra for Reversible Sorting and Hybridization of Miktoarm Star Polymers

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Angewandte Chemie 2023年第49期135卷

作者： Yuyan Lai Xiaofeng He Binghui Xue Mu Li Dr. Huihui Wang Dr. Wei Huang Dr. Jia-Fu Yin Dr. Mingxin Zhang Prof. Dr. Panchao Yin State Key Laboratory of Luminescent Materials and Devices South China Advanced Institute for Soft Matter Science and Technology South China University of Technology Guangzhou 510640 P. R. China Contribution: Investigation (lead) Methodology (equal) Writing - original draft (equal) Contribution: Investigation (equal) Methodology (supporting) Writing - original draft (equal) Contribution: Data curation (equal) Methodology (supporting) Validation (supporting) Contribution: Formal analysis (equal) Resources (supporting) Validation (supporting) State Key Laboratory of Marine Resource Utilization in South China Sea Hainan Provincial Key Lab of Fine Chemistry School of Chemical Engineering and Technology Hainan University Haikou Hainan 570228 P. R. China Contribution: Methodology (supporting) Validation (supporting) Contribution: Formal analysis (supporting) Validation (supporting) Contribution: Formal analysis (supporting) Visualization (supporting) Contribution: Conceptualization (equal) Formal analysis (equal) Investigation (equal) Supervision (supporting) Visualization (lead) Writing - original draft (equal) Contribution: Conceptualization (lead) Formal analysis (equal) Funding acquisition (lead) Project administration (lead) Supervision (lead) Validation (equal) Writing - original draft (equal) Writing - review & editing (lead)

The precise synthesis of miktoarm star polymers (MSPs) remains one of the great challenges in synthetic chemistry due to the difficulty in locating appropriate structural templates and polymer grafting/growing strategies with high selectivity and efficiency. Herein, ≈2 nm metal-organic polyhedra (MOPs), constructed from the coordination of isophthalic acid (IPA) and Cu 2+ , are applied as templates for the precise synthesis of 24-arm MSPs for their unique logarithmic ligand-exchange dynamics. Six different polymers are prepared with IPA as an end group and they further coordinated with Cu 2+ to afford the corresponding 24-arm star homo-polymers. MSPs can be obtained by mixing targeted homo-arm star polymers in solutions upon thermal annealing. The compositions of MSPs can be facilely and precisely tuned by the recipe of the star polymer mixtures used. Interestingly, the obtained MSPs can be sorted into homo-arm star polymers through a typical solvent extraction procedure. The hybridization and sorting process can be reversibly conducted through the cycle of thermal annealing and solvent treatment. The complex coordination framework not only opens new avenues for the facile and precise synthesis of MSPs and MOPs with hybrid functionalities, but also provides the capability to design sustainable polymer systems.

关键词： Inorganic–Organic Hybrid Materials Metal–Organic Polyhedra Miktoarm Star Polymers Solution Dynamics Sustainable Polymers

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Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis

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eBioMedicine 2025年 116卷 105758-105758页

作者： Yazaki, Shu Hori, Megumi Aiba, Hisaki Momozawa, Yukihide Yoshida, Masayuki Shiino, Sho Harano, Kenichi Yamauchi, Chisako Yamanaka, Takashi Miwa, Maiko Matsuda, Koichi Kawai, Yosuke Kobayashi-Kato, Mayumi Kitagawa, Masakazu Saito, Motonobu Nakagomi, Hiroshi Tachibana, Kazunoshin Sakamoto, Ikuko Takahashi, Kazuaki Asami, Yuka Katanoda, Kota Kuchiba, Aya Yoshida, Hiroshi Ishikawa, Mitsuya Shimoi, Tastunori Sudo, Kazuki Shimizu, Chikako Shimomura, Akihiko Murata, Takeshi Yamashita, Yuji Kogawa, Takahiro Fujiwara, Saori Saji, Haruya Kato, Hisamori Miyagi, Etsuko Iwasaki, Yusuke Aoi, Tomomi Takata, Sadaaki Ogasawara, Aiko Ohtake, Tohru Fujimori, Keiya Hirotsu, Yosuke Nagashima, Minoru Komatsu, Masaaki Hamamoto, Ryuji Hirata, Makoto Yoshida, Teruhiko Honda, Takayuki Hiranuma, Kengo Matsuda, Maiko Shimada, Yoko Sunami, Kuniko Noiri, Eisei Omae, Yosuke Matsumoto, Koji Okamoto, Aikou Omata, Masao Watanabe, Takafumi Miyagi, Yohei Murakami, Yoshinori Tokunaga, Katsushi Hasegawa, Kosei Kato, Tomoyasu Onishi, Tatsuya Yamashita, Toshinari Naito, Yoichi Suto, Akihiko Yonemori, Kan Kohno, Takashi Shiraisihi, Kouya Matsuda, Koichi Iwasaki, Yusuke Aoi, Tomomi Takata, Sadaaki Murakami, Yoshinori Noiri, Eisei Omae, Yosuke Tokunaga, Katsushi Division of Genome Biology National Cancer Center Research Institute Tokyo Japan Department of Medical Oncology National Cancer Center Hospital Tokyo Japan Department of International Clinical Development National Cancer Center Hospital Tokyo Japan School of Nursing University of Shizuoka Shizuoka Japan Laboratory for Genotyping Development RIKEN Center for Integrative Medical Sciences (IMS) Yokohama Japan Department of Diagnostic Pathology National Cancer Center Hospital Tokyo Japan Department of Breast Surgery National Cancer Center Hospital Tokyo Japan Department of Experimental Therapeutics National Cancer Center Hospital East Chiba Japan Department of Medical Oncology National Cancer Center Hospital East Chiba Japan Department of Breast Surgery National Cancer Center Hospital East Chiba Japan Department of Breast Surgery and Oncology Kanagawa Cancer Center Yokohama Japan Department of Gynecologic Oncology Saitama Medical University International Medical Center Saitama Japan Laboratory of Clinical Genome Sequencing Department of Computational Biology and Medical Science of Frontier Sciences The University of Tokyo Tokyo Japan Genome Medical Science Project Research Institute National Center for Global Health and Medicine Tokyo Japan Department of Gynecology National Cancer Center Hospital Tokyo Japan Department of Gynecology Kanagawa Cancer Center Kanagawa Japan Department of Gastrointestinal Tract Surgery Fukushima Medical University School of Medicine Fukushima Japan Department of Surgery Yamanashi Central Hospital Yamanashi Japan Department of Breast Surgery Fukushima Medical University School of Medicine Fukushima Japan Department of Obstetrics and Gynecology Yamanashi Central Hospital Yamanashi Japan Department of Obstetrics and Gynecology The Jikei University School of Medicine Tokyo Japan Department of Obstetrics and Gynecology Showa Medical University Tokyo Japan Division of Population Data Science National Cancer Center Institute f

Background: Pathogenic variants (PVs) of BRCA1 and BRCA2 predispose individuals to a higher risk of breast and ovarian cancer;however, the precise risks posed by other cancer susceptibility genes remain unclear, particularly in Asian populations. Methods: We executed a case–control study of 11 and 26 genes associated with breast and ovarian cancer susceptibility, respectively, in 7220 women with breast cancer, 2464 women with ovarian cancer, and 4032 controls from a multicentre, hospital-based registry in Japan. Furthermore, we conducted a meta-analysis of 23,193 patients with breast and/or ovarian cancer and 31,190 controls from six other hospital-based studies. Findings: Overall, 395 (5.5%) patients with breast cancer and 331 (13.4%) patients with ovarian cancer harboured PVs. Meta-analyses revealed that PVs of BRCA1, BRCA2, CHEK2, PALB2, and TP53 were associated significantly with breast cancer risk (P < 0.001), while PVs of ATM, BRCA1, BRCA2, MSH6, and RAD51D were associated significantly with ovarian cancer risk (P < 0.001). PVs in the BRCA1 DNA-binding domain were associated with a younger age at diagnosis after adjusting for cancer type and family history (β = −3.79, 95% CI = −7.16 to −0.41;P = 0.028). Interpretation: These results provide information about genes associated with breast and ovarian cancer risk in Asian women, as well as guidance for management of PV carriers. Funding: The study was funded by AMED (JP15ck010609, 19cm0106605h0003, 23ama221520h0001, and JP19kk0305010), by a Health Labour sciences Research Grant (202108001B), by JSPS KAKENHI (JP18K16292, 20H03668, 23H02955, 17H06162, 20H03695, and 16H06277), and by a Grant-in-Aid for the Genome Research project from Yamanashi Prefecture. © 2025 The Author(s)

关键词： Breast cancer Cancer predisposition genes Cumulative cancer risk Ovarian cancer

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