Our team was established in 2000 to realize personalized medicine to each individual's genetic background. We have developed large-scale genome analysis technologies and applied them to various diseases. In the early stages, we established a high-speed SNP genotyping system combining multiplex PCR (J Hum Genet) and the Invader method, contributing to the international HapMap Project (Nature). Since 2005, as the core research institution for genetic analysis under the Ministry of Education, Culture, Sports, Science and Technology (MEXT) commissioned project "Tailor-made Medical Treatment Program", we have been advancing genome-wide association studies targeting over 200,000 patients with various diseases collected by BioBank Japan (Nat Genet, Nat Genet, etc.). Recently, we have focused on "rare variants", which are rare within a population but significantly contribute to disease onset. We have established a unique targeted sequencing method (Hum Mol Genet) and are advancing research with a focus on hereditary cancer. To date, we have analyzed 23 cancer types in more than 140,000 people, clarifying the relationship between genes and disease risk, clinical characteristics, and interactions with environmental factors (JAMA Oncol, N Engl J Med, etc.). The results have been reflected in many domestic and international clinical guidelines and are being utilized in actual clinical practice. Additionally, we are expanding the research strategy to other diseases such as dementia, as well as to companion animals such as dogs and cats, which are important models for human diseases. Furthermore, our team actively provides large-scale genomic analysis technologies to researchers both domestically and internationally to support their analyses (Nat Med, Nat Cancer, etc.), with the ultimate goal of reducing the number of people suffering from diseases.

News


May 08, 2025 Updates
Publication, Member, Our history page have been updated.
Dec 12, 2024 Publication
The paper "Cancer and disease profiles for PTEN pathogenic variants in Japanese population. " was published in Journal of Human Genetics.
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

News


May 08, 2025 Updates
Publication, Member, Our history page have been updated.
Dec 12, 2024 Publication
The paper "Cancer and disease profiles for PTEN pathogenic variants in Japanese population. " was published in Journal of Human Genetics.
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