The aims of the Laboratory for Genotyping Development are to produce 19research projects for the implementation of personalized medicine.large-scale genomic data for personalized medicine and to assist with research projects conducted in IMS, other universities and academic institutes, and companies. Our laboratory published 29 papers in 2023.As our main project, we focused on rare germline pathogenic variants in he-reditary cancer genes to broaden personalized medicine. Our results have been included in several clinical guidelines to contribute to personalized medicine. This year, we reported an integrated analysis of pathogenic variants and Heli-cobacter pylori infection in gastric cancer in > 50,000 samples to show that an interaction between H. pylori infection and pathogenic variants in homologous-recombination genes contributes to the risk of gastric cancer. This suggests that pathogenic variant carriers should receive an evaluation of Helicobacter pylori infection status, and its eradication if positive, to reduce gastric cancer risk (New Engl J Med 2023; 388:1181-1190). We will expand this project to provide individual risk estimation based on rare pathogenic variants, common variants, environmental factors, and infections across 23 cancer types.To support other research projects in IMS, we run a Genome Platform to support library preparation, next-generation sequencing and data analysis. We have 77 projects and performed sequencing runs with MiSeq (N=231), Next-Seq2000 (N=41), NovaSeq6000 (N=142), and Sequel II (N=10). We have begun to access a new PacBio sequencer, Revio.We will continue to run our own research projects and contribute to other Figure: Combined impact of germline pathogen-ic variants in homologous recombination genes and Helicobacter pylori infection on gastric can-cer riskIndividuals with both pathogenic variants and Helico-bacter pylori infection showed an excess risk of gastric cancer compared to individuals with either factor alone. Pathogenic variants in homologous recombination genes appear to boost Helicobacter pylori-related gastric cancer risk. OR, Odds Ratio.Recent Major PublicationsUsui 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*, Momo-zawa Y*. Helicobacter pylori, homologous recombina-tion genes and gastric cancer. N Engl J Med 388, 1181-1190 (2023) *Equally supervisedUsui Y, Momozawa Y. Personalized medicine with germ-line pathogenic variants: Importance of population- and region-wide evidence. Cancer Sci 114, 3816-24 (2023)Shibutani S, Endo M*, Mizukami K, Hosoi E, Sakai Y, Taniguchi M, Harada H, Momozawa Y, Iwata H. Develop-ment of a high-throughput screening method for the detection of 188 pathogenic variants and its application in Mishima cattle. Anim Genet 54, 416-417 (2023) *Co-first authorInvited presentationsMomozawa Y. “The importance of large-scale genetic analysis in each area and population for its personalized medicine”, Human Genetics Asia 2023 (Tokyo, Japan) October 2023Momozawa Y. “Analysis with germline pathogenic variants could expand possibilities for personalized medicine in cancer”, The 61st Annual Meeting of Japan Society of Clinical Oncology (Yokohama, Japan) October 2023Usui Y. “Evaluation of genetic and environmental factors for cancer risk”, The 82nd Annual Meeting of the Japa-nese Cancer Association (Yokohama, Japan) September 2023Momozawa Y. “Genetic analysis of 120K samples across 23 cancer types in BioBank Japan”, ENIGMA meeting (Wein, Austria) Jun 2023Usui Y. “Large-scale analysis of germline variants to elucidate cancer risk”, The 24th Hormone and Cancer Research Meeting (Tokyo, Japan) Jun 2023Laboratory for Genotyping DevelopmentTeam Leader: Yukihide Momozawa
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