RIKEN Center for Integrative Medical Sciences Laboratory for Genotyping Development

Team Director: Yukihide Momozawa (D.V.M., Ph.D.)

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Research Summary

Since our establishment in 2000, we have been developing and applying large-scale genomic analysis technologies aiming to realize personalized medicine. In the beginning, we contributed to the International HapMap Project. Since 2005, we have driven genome-wide association studies (GWAS) involving more than 200,000 individuals with diverse diseases from BioBank Japan. Recently, we have focused on rare variants and analyzed more than 140,000 individuals and elucidated risks associated with hereditary tumors. These findings have been incorporated into clinical guidelines in Japan and abroad. Furthermore, we are expanding our research to dementia and companion animals while supporting research initiatives both domestically and internationally. We continue our research with the goal of reducing the number of people suffering from disease.

Main Research Fields

Medicine, Dentistry & Pharmacy

Related Research Fields

Agricultural Sciences

Keywords

Genome
Complex disease
Next generation sequencer
Rare variants

Selected Publications

Papers with an asterisk(*) are based on research conducted outside of RIKEN.

1. Usui Y, Taniyama Y, Endo M, Koyanagi Y, Kasugai Y, Oze I, Ito H, Imoto I, Tanaka T, Tajika M, Niwa Y, Iwasaki Y, Aoi T, Hakozaki N, Takata S, Suzuki K, Terao C, Hatakeyama M, Hirata M, Sugano K, Yoshida T, Kamatani Y, Nakagawa H, Matsuda K, Murakami Y, Spurdle A, Matsuo K, Momozawa Y.:
"Helicobacter pylori, homologous recombination genes and gastric cancer"
N Engl J Med. 388:1181-1190. (2023).
2. Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons M T., Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle A B., Kubo M.:
"Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants"
JAMA Oncol. 8:871-878. (2022).
3. Hashimoto M, Saito Y, Nakagawa R, Ogahara I, Takagi S, Takata S, Amitani H, Endo M, Yuki H, Ramilowski J A., Severin J, Manabe R, Watanabe T, Ozaki K, Kaneko A, Kajita H, Fujiki S, Sato K, Honma T, Uchida N, Fukami T, Okazaki Y, Ohara O, Shultz L D., Yamada M, Taniguchi S, Vyas P, De Hoon M, Momozawa Y, Ishikawa F.:
"Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia"
Nature Cancer. 2:340-356. (2021).
4. Saiki R, Momozawa Y, Nannya Y, Nakagawa M M., Ochi Y, Yoshizato T, Terao C, Kuroda Y, Shiraishi Y, Chiba K, Tanaka H, Niida A, Imoto S, Matsuda K, Morisaki T, Murakami Y, Kamatani Y, Matsuda S, Kubo M, Miyano S, Makishima H, Ogawa S.:
"Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis"
Nature Medicine. 27:1239-1249. (2021).
5. Mizukami K, Iwasaki Y, Kawakami E, Hirata M, Kamatani Y, Matsuda K, Endo M, Sugano K, Yoshida T, Murakami Y, Nakagawa H, Spurdle A B., Momozawa Y.:
"Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes"
EBioMedicine. 60:103033. (2020).
6. Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle A B., Kubo M.:
"Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls"
Nat Commun. 9:4083. (2018).
7. Momozawa Y, Akiyama M, Kamatani Y, Arakawa S, Yasuda M, Yoshida S, Oshima Y, Mori R, Tanaka K, Mori K, Inoue S, Terasaki H, Yasuma T, Honda S, Miki A, Inoue M, Fujisawa K, Takahashi K, Yasukawa T, Yanagi Y, Kadonosono K, Sonoda K, Ishibashi T, Takahashi A, Kubo M.:
"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).
8. Arakawa S, Takahashi A, Ashikawa K, Hosono N, Aoi T, Yasuda M, Oshima Y, Yoshida S, Enaida H, Tsuchihashi T, Mori K, Honda S, Negi A, Arakawa A, Kadonosono K, Kiyohara Y, Kamatani N, Nakamura Y, Ishibashi T, Kubo M.:
"Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population"
Nat Genet. 43:1001-1004. (2011).
9. Kubo M, Hata J, Ninomiya T, Matsuda K, Yonemoto K, Nakano T, Matsushita T, Yamazaki K, Ohnishi Y, Saito S, Kitazono T, Ibayashi S, Sueishi K, Iida M, Nakamura Y, Kiyohara Y.:
"A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction"
Nat Genet. 39:212-217. (2007).
10. The International HapMap Consortium.:
"A haplotype map of the human genome"
Nature. 437:1299-1320. (2005).