About Our Team
Since our laboratory was founded in 2000, we have performed large-scale genetic analyses to advance genomic-based personalized medicine by leveraging individual differences in genomic DNA. Initially, we contributed to the success of the International HapMap Project. Since 2005, our team has worked as a main facility for genetic research, performing genome wide association studies of various complex diseases for the BioBank Japan project. Recently, we have focused on rare variants with large effects on disease risk and studied hereditary cancers. Our goal is to advance genomic medicine to optimize the use of genetic information in healthcare.
Since our laboratory was founded in 2000, we have performed large-scale genetic analyses to advance genomic-based personalized medicine by leveraging individual differences in genomic DNA. Initially, we contributed to the success of the International HapMap Project. Since 2005, our team has worked as a main facility for genetic research, performing genome wide association studies of various complex diseases for the BioBank Japan project. Recently, we have focused on rare variants with large effects on disease risk and studied hereditary cancers. Our goal is to advance genomic medicine to optimize the use of genetic information in healthcare.

News

Apr 02, 2024 Updates
Publication page has been updated.
Oct 26, 2023 Awards News
Dr. Usui received the Best Oral Award at the Human Genetics Asia 2023.　 Go to article page: RIKEN-Research News
Aug 14, 2023 Publication
Dr. Usui's review was published in Cancer Science.　 Personalized medicine with germline pathogenic variants: Importance of population and region-wide evidence.
More...

10 Key publications

  1. Helicobacter pylori, homologous recombination genes and gastric cancer. N Engl J Med 388:1181-1190, 2023
    DOI: 10.1056/NEJMoa2211807 　 Summary: RIKEN Press Release 　
  2. Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants. JAMA Oncol 8:871-878, 2022
    DOI: 10.1001/jamaoncol.2022.0476 　
  3. Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia. Nat Cancer 2:340–356, 2021
    DOI: 10.1038/s43018-021-00177-w 　
  4. Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis. Nat Med 27:1239–1249, 2021
    DOI: 10.1038/s41591-021-01411-9 　
  5. Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes. EBioMedicine 60:103033, 2020
    DOI: 10.1016/j.ebiom.2020.103033 　
  6. Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. Nat Commun 9:4083, 2018
    DOI: 10.1038/s41467-018-06581-8 　
  7. Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population. Hum Mol Genet 25:5027-5034, 2016
    DOI: 10.1093/hmg/ddw335
  8. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat Genet 43:1001-1004, 2011
    DOI: 10.1038/ng.938
  9. A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction. Nat Genet 39:212-217, 2007
    DOI: 10.1038/ng1945
  10. A haplotype map of the human genome. Nature 437:1299-1320, 2005
    DOI: 10.1038/nature04226
Research Publication Member Our history Contact

News

Apr 02, 2024 Updates
Publication page has been updated.
Oct 26, 2023 Awards News
Dr. Usui received the Best Oral Award at the Human Genetics Asia 2023.　 Go to article page: RIKEN-Research News
Aug 14, 2023 Publication
Dr. Usui's review was published in Cancer Science.　 Personalized medicine with germline pathogenic variants: Importance of population and region-wide evidence.
More...

10 Key publications

  1. Helicobacter pylori, homologous recombination genes and gastric cancer. N Engl J Med 388:1181-1190, 2023
    DOI: 10.1056/NEJMoa2211807 　 Summary: RIKEN Press Release 　
  2. Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants. JAMA Oncol 8:871-878, 2022
    DOI: 10.1001/jamaoncol.2022.0476 　
  3. Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia. Nat Cancer 2:340–356, 2021
    DOI: 10.1038/s43018-021-00177-w 　
  4. Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis. Nat Med 27:1239–1249, 2021
    DOI: 10.1038/s41591-021-01411-9 　
  5. Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes. EBioMedicine 60:103033, 2020
    DOI: 10.1016/j.ebiom.2020.103033 　
  6. Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. Nat Commun 9:4083, 2018
    DOI: 10.1038/s41467-018-06581-8 　
  7. Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population. Hum Mol Genet 25:5027-5034, 2016
    DOI: 10.1093/hmg/ddw335
  8. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat Genet 43:1001-1004, 2011
    DOI: 10.1038/ng.938
  9. A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction. Nat Genet 39:212-217, 2007
    DOI: 10.1038/ng1945
  10. A haplotype map of the human genome. Nature 437:1299-1320, 2005
    DOI: 10.1038/nature04226