The aims of the Laboratory for Genotyping Development are 1) to produce ⃝ We also contributed to other key findings about acute myeloid leukemia (Nat Cancer 2:340–356) and clonal hematopoiesis (Nat Med 27:1239-1249) with-in/outside of RIKEN by using our high-throughput targeted sequencing.21year are:⃝ A case-control study of 14 renal cell carcinoma (RCC)-related genes and 26 cancer-predisposing genes was performed using 1,563 Japanese patients with RCC and 6,016 controls. For clear cell RCC, 52 of 1,283 (4.05%) patients carried pathogenic variants mainly in the cancer-predisposing genes such as TP53 (P = 1.73 × 10-4; OR, 5.8; 95% CI, 2.2–15.7). Approximately 80% of patients with pathogenic variants in TP53 had p.Ala189Val, which was spe-cific in the East Asian population. For non-clear cell RCC, 14 of 249 (5.62%) patients carried pathogenic variants mainly in the RCC-related genes such as BAP1 and FH (P = 6.27 × 10-5; OR, Inf; 95% CI, 10.0–Inf). Patients with pathogenic variants in associated genes were diagnosed 15.8 years earlier and had a stronger family history of RCC (OR, 20.0; 95% CI 1.3-237.4) than non-carriers. Our study showed different and population-specific contri-butions of risk genes between ccRCC and nccRCC in Japanese for better-personalized medicine [Hum Mol Genet (in press)].to contribute to the implementation of personalized medicine.precise and large-scale genomic data to identify genetic variants related to disease susceptibility, outcomes and drug responses in close collaboration with various laboratories in IMS, and 2) to support each laboratory in library preparation, sequencing and data analysis related to sequencing as the Genome Platform.Our laboratory published 22 papers in 2021. The main achievements this We will continue to work as a research hub for large-scale genomic analyses Figure: Clinical characteristics of patients with renal cell carcinoma who carry pathogenic vari-ants in statistically associated genesWe performed a case-control study using 1,532 patients with renal cell carcinoma and 5,996 controls. We sepa-rately analyzed two major histological subtypes, clear cell renal cell carcinoma (ccRCC) and non-clear cell renal cell carcinoma (nccRCC). Each vertical box in this figure indicates each patient. The purple and yellow boxes in the upper part represent loss of function and missense variants, respectively. The lower part indicates the clini-cal characteristics of each patient.Recent Major PublicationsSekine Y, Iwasaki Y, Aoi T, Endo M, Hirata M, Kamatani Y, Matsuda K, Sugano K, Yoshida T, Murakami Y, Fukui T, Akamatsu S, Ogawa O, Nakagawa H, Numakura K, Narita S, Habuchi T, Momozawa Y. Different risk genes contribute to clear cell and non-clear cell renal cell carcinoma in 1,532 Japanese patients and 5,996 controls. Hum Mol Genet, (2021) In pressHashimoto M, Saito Y, Nakagawa R, Ogahara I, Takagi S, Takata S, Amitani H, Endo M, Yuki H, Ramilowski JA, Sev-erin 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 LD, Yamada M, Taniguchi S, Vyas P, Hoon MJ, Momozawa Y, Ishikawa F. Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in geneti-cally diverse aggressive acute myeloid leukemia. Nat Cancer 2, 340-356 (2021)Saiki R, Momozawa Y, Nannya Y, Nakagawa MM, 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 hemato-poiesis. Nat Med 27, 1239-1249 (2021)Invited presentationsMomozawa Y. “Large-scale genome sequencing of heredi-tary cancer genes across 14 cancer types in Japan” X Jubi-lee International Science-Practical Conference Molecular Diagnostics (Online) December 2021Momozawa Y. “Pan-cancer analysis of hereditary cancer genes” The 80th Annual Meeting of the Japan Neurosurgi-cal Society (Yokohama, Japan) October 2021Momozawa Y. “Large-scale germline sequencing of hereditary cancer genes in >60,000 cancer patients and controls” 2021 JCA-AACR Precision Cancer Medicine Inter-national Conference (Online) September 2021Momozawa Y. “Current situation about hereditary cancer genes revealed by Japanese large-scale genome data” The 80th Annual Meeting of the Japanese Cancer Association (Yokohama, Japan) September 2021Momozawa Y. “Characterics of Japanes hereditary prostate cancer” The 30th Annual Meeting of the Preventive Ne-phrology and Urology (Fukuoka, Japan) July 2021Laboratory for Genotyping DevelopmentTeam Leader: Yukihide Momozawa
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