Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases
Usui Y., Endo M., Iwasaki Y., Iijima H., Nakagawa H., Matsuda K., et al.; Blood Cancer Discov 6:298-306, 2025
DOI:
10.1158/2643-3230.BCD-24-0355
日本語解説:
理研プレスリリース
Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia
Takehara Y., Usui Y., Stolarova L., Kleiblova P., Iwasaki Y., Johnson T. A., et al.; JCO Precis Oncol 9:e2400945, 2025
DOI:
10.1200/PO-24-00945
日本語解説:
理研プレスリリース
Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan
Mizukami K., Usui Y., Iwasaki Y., Shiraishi K., Hirata M., Kamatani Y., et al.; Commun Med (Lond) 5(1):522, 2025
DOI:
10.1038/s43856-025-01231-9
日本語解説:
理研プレスリリース
Revisiting the impact of BRCA1 pathogenic variants on the aggressiveness of prostate cancer
Sasagawa H., Narita S., Matsuda K., Kosaka T., Momozawa Y.; JNCI Cancer Spectr 10(1):pkaf118, 2025
DOI:
10.1093/jncics/pkaf118
Genetic variants in dog cytochrome P450 2B6 and their relevance to interindividual variability of oxidations of probe drug propofol
Uno Y., Fukunaga K., Ushirozako G., Murayama N., Mizukami K., Aoi T., et al.; Drug Metabolism and Disposition 53(12):100189, 2025
DOI:
10.1016/j.dmd.2025.100189
日本語解説:
理研プレスリリース
Genetic variants of cytochrome P450 2C21 identified by screening 6344 dogs influenced oxidations of the probe drug omeprazole
Uno Y., Fukunaga K., Ushirozako G., Murayama N., Mizukami K., Aoi T., et al.; Biochemical Pharmacology 242(4):117394, 2025
DOI:
10.1016/j.bcp.2025.117394
Smoking behavior-related genetic variants and lung cancer risk in Japanese: an assessment by mediation analysis
Yamamoto S., Koyanagi Y. N., Iwashita Y., Shinozaki T., Fujiwara Y., Sakakura N., et al.; Carcinogenesis 46(2):bgaf011, 2025
DOI:
10.1093/carcin/bgaf011
Comprehensive investigation of gene mutations in canine large cell gastrointestinal lymphoma
Matsumura N., Tsuruta T., Goto-Koshino Y., Mizukami K., Aoi T., Yamada R., et al.; Frontiers in Veterinary Science 12:1535446, 2025
DOI:
10.3389/fvets.2025.1535446
Multi-Trait Polygenic Risk Score, Nongenetic Determinants, and Cardiovascular Disease Death: A Cohort Study of 14 086 Japanese Individuals
Fujii R., Nagayoshi M., Nakatochi M., Sato S., Tsuboi Y., Suzuki K., et al.; Journal of the American Heart Association 14:e038572, 2025
DOI:
10.1161/JAHA.124.038572
Germline Pathogenic Variants and Clinical Outcomes in Asian Patients With Breast Cancer
Kitadai R., Yazaki S., Kuchiba A., Yamanaka T., Shiino S., Yamauchi C., et al.; Cancer Science 116:1048-1058, 2025
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10.1111/cas.70002
Comparison of polygenic risk scores for type 2 diabetes developed from different ancestry groups
Furukawa T., Hara M., Nishida Y., Tanaka K., Shimanoe C., Iwasaka C., et al.; NPJ Metab Health Dis 3(1):17, 2025
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10.1038/s44324-025-00059-0
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis
Yazaki S., Hori M., Aiba H., Momozawa Y., Yoshida M., Shiino S., et al.; Ebiomedicine 116:105758, 2025
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Steroid-Modulated Transcription Synergistically Forms DNA Double-Strand Breaks With Topoisomerase II Inhibitor
Zhao Y., Hisayoshi T., Zhang D. D., Suzuki S., Watanabe T., Kobayashi A., et al.; Cancer Science 116:1952-1962, 2025
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10.1111/cas.70081
Inverse association between fruit juice consumption and type 2 diabetes among individuals with high genetic risk on type 2 diabetes: the Japan Multi-Institutional Collaborative Cohort (J-MICC) study
Kawahara T., Nawa N., Oze I., Ikezaki H., Hara M., Kubo Y., et al.; British Journal of Nutrition 134:89-96, 2025
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A win ratio approach for comparing graft-versus-host disease-free, relapse-free survival among alternative donors
Shimomura Y., Komukai S., Kitamura T., Yoshimura K., Inamoto Y., Akahoshi Y., et al.; British Journal of Haematology 207:946-955, 2025
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10.1111/bjh.70008
Stratifying lung adenocarcinoma risk with multi-ancestry polygenic risk scores in East Asian never-smokers
Blechter B., Wang X., Dai J., Karsonaki C., Shi J., Shiraishi K., et al.; J Natl Cancer Inst 118(2):231-249, 2025
DOI:
10.1093/jnci/djaf272
Coffee intake, genetic variants, and chronic kidney disease: a cross-sectional analysis of the Japan Multi-Institutional Collaborative Cohort (J-MICC) study
Unohara T., Fujii R., Watanabe T., Matsuura A., Torii Y., Kita K., et al.; European Journal of Nutrition 64, 2025
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10.1007/s00394-025-03819-2
Genomic Profiles of Pathogenic and Moderate-Penetrance Germline Variants Associated With Risk of Early-Onset Lung Adenocarcinoma
Cho H. R., Shiraishi K., Sunami K., Momozawa Y., Yoshida T., Matsumoto S., et al.; Journal of Thoracic Oncology 20:1626-1638, 2025
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Mutation rate and spectrum of germline de novo mutations in a closed population of Thoroughbred horses
Furukawa R., Tozaki T., Mizukami K., Iwasaki Y., Kawate K., Kikuchi M., et al.; J Equine Vet Sci 154:105682, 2025
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Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population
Enzan N., Miyazawa K., Koyama S., Kurosawa R., Ieki H., Yoshida H., et al.; Nature Communications 16, 2025
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10.1038/s41467-025-64659-6
Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population
Higasa K., Kamatani Y., Kawaguchi T., Kawaguchi S., Sakaue S., Yang T. Y., et al.; Journal of Human Genetics , 2025
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Comparative transcriptome atlas as an assistive modality for complex classification of rare kidney cancers
Jikuya R., Johnson T. A., Muraoka E., Noguchi G., Maekawa S., Obara W., et al.; Nature Communications 16, 2025
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10.1038/s41467-025-65303-z
Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer
Yazaki S., Kitadai R., Momozawa Y., Yoshida T., Yamanaka T., Shiino S., et al.; NPJ Breast Cancer 0.550694444444444, 2025
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10.1038/s41523-025-00848-2
Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients
Koyanagi Y., Murakami Y., Kominami T., Fukushima M., Goto K., Yokota S., et al.; NPJ Genom Med , 2025
DOI:
10.1038/s41525-025-00541-0
