The aims of the Laboratory for Genotyping Development are 1) to produce ⃝The domestic dog represents an ideal model for identifying susceptibility genes, many of which are shared with humans. We performed a genome-wide association study in 40 clinically important measurements in 472 healthy dogs from eight breeds in five European countries. We identified three experimental wide significant associations. A single SNP was respon-sible for a larger proportion of the phenotype variance (6.8-78.4%) than humans. These findings illustrate the utility of canine GWAS to reveal the genetic contribution to individual differences in clinically important mea-surements.We will continue to work as a research hub for large-scale genomic analyses 21year are:⃝Pancreatic cancer is devastating because of its high mortality rate, and 5-10% of pancreatic cancer is considered to be caused by only one pathogenic vari-ant. Identifying a pathogenic variant would assist with the early detection of at-risk individuals and would be beneficial for selecting a drug treatment. We sequenced 27 cancer-predisposing genes in 1,005 pancreatic cancer pa-tients and 23,705 controls to identify BRCA1, BRCA2, and ATM associated with pancreatic cancer. Among them, 3.4% of patients with pathogenic vari-ants in BRCA1 and BRCA2 may respond to treatments with a PARP inhibi-tor, which was newly covered by health insurance in Japan in Dec 2020.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 develop methods and databases useful for personalized medicine. Our laboratory has functioned as a research hub for large-scale genomic analyses, collaborating with domestic and international universities, research institutes, and companies.Our laboratory published 20 papers in 2020. The main achievements this Figure: Location and number of pathogenic vari-ants in ATM, BRCA1 and BRCA2 associated with pancreatic cancerWe found that pathogenic variants in ATM, BRCA1 and BRCA2 were significantly associated with pancreatic cancer in 1,005 cases and 23,705 controls. Locations of pathogenic variants found in patients and Pfam domains are shown with lollipop structures, with the variant type indicated by color. Pink and yellow circles indicate loss of function and nonsynonymous variants, respectively. The x-axis indicates the number of amino acid residues.Recent Major PublicationsFujita M, Liu X, Iwasaki Y, Terao C, Mizukami K, Kawaka-mi E, Takata S, Inai C, Aoi T, Mizukoshi M, Maejima K, Hirata M, Murakami Y, Kamatani Y, Kubo M, Akagi K, Matsuda K, Nakagawa H, Momozawa Y. Population-based Screening for Hereditary Colorectal Cancer Vari-ants in Japan. Clin Gastroenterol Hepatol doi: 10.1016/j.cgh.2020.12.007 (Epub 2020)Mizukami K, Iwasaki Y, Kawakami E, Hirata M, Kamatani Y, Matsuda K, Endo M, Sugano K, Yoshida T, Murakami Y, Nakagawa H, Spurdle AB, Momozawa Y. Genetic charac-terization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes. EBioMedicine 60, 103033 (2020)Momozawa Y, Merveille AC, Battaille G, Wiberg M, Koch J, Willesen JL, Proschowsky HF, Gouni V, Chetboul V, Tiret L, Fredholm M, Seppälä EH, Lohi H, Georges M, Lequarré AS. Genome wide association study of 40 clinical mea-surements in eight dog breeds. Sci Rep 10, 6520 (2020)Invited presentationsMomozawa Y. “Canine genome wide association study” National Institute of Genetics Meeting (Online) Decem-ber 2020Momozawa Y. “A large-scale genetic analysis of prostate cancer” The 6th Annual Meeting of the Japan Society of Urologic Oncology (Kyoto, Japan) October 2020Momozawa Y. “The perspective of genome medicine in (breast) cancer based on Biobank Japan data” The 58th Annual Meeting of Japan Society of Clinical Oncology (Kyoto, Japan) October 2020Momozawa Y. “Large-sale genomic analysis in heredi-tary (colorectal) cancer” The 79th Annual Meeting of Japanese Cancer Association (Hiroshima, Japan) October 2020Momozawa Y. “Role of rare variants in the genetics of complex diseases in humans” National Institute of Ge-netics Meeting (Mishima, Japan) February 2020Laboratory for Genotyping DevelopmentTeam Leader: Yukihide Momozawa
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