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2022


  1. Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
    Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, et al.; JAMA Oncol 8:871-878, 2022
    DOI: 10.1001/jamaoncol.2022.0476   日本語解説: 理研プレスリリース
  2. Different risk genes contribute to clear cell and non-clear cell renal cell carcinoma in 1,532 Japanese patients and 5,996 controls.
    Sekine Y, Iwasaki Y, Aoi T, Endo M, Hirata M, Kamatani Y, et al.; Hum Mol Genet 31:1962-1969, 2022
    DOI: 10.1093/hmg/ddab345   日本語解説: 理研プレスリリース  
  3. Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
    Usui Y, Iwasaki Y, Matsuo K, Endo M, Kamatani Y, Hirata M, et al.; Cancer Sci 113:3972-3979, 2022
    DOI: 10.1111/cas.15522   日本語解説: 理研プレスリリース  
  4. Prevalence and risk estimation of cancer-predisposing genes for upper urinary tract urothelial carcinoma in Japanese.
    Sekine Y, Iwasaki Y, Hakozaki N, Endo M, Kamatani Y, Matsuda K, et al.; Jpn J Clin Oncol 52:1441-1445, 2022
    DOI: 10.1093/jjco/hyac141  
  5. Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.
    Casaletto J, Parsons M, Markello C, Iwasaki Y, Momozawa Y, Spurdle A, et al.; Cell genomics 2:100109, 2022
    DOI: 10.1016/j.xgen.2022.100109   日本語解説: 理研ニュース  
  6. ABO O blood group as a risk factor for platelet reactivity in heparin-induced thrombocytopenia.
    Karnes JH, Rollin J, Giles JB, Martinez KL, Steiner HE, Shaffer CM, et al.; Blood 140:274-284, 2022
    DOI: 10.1182/blood.2021014240  
  7. Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.
    Akamatsu S, Terada N, Takata R, Kinoshita H, Shimatani K, Momozawa Y, et al.; JNCI Cancer Spectr 6:pkac001, 2022
    DOI: 10.1093/jncics/pkac001  
  8. A genome-wide association study on adherence to low-carbohydrate diets in Japanese.
    Nakamura Y, Tamura T, Narita A, Shimizu A, Sutoh Y, Takashima N, et al.; Eur J Clin Nutr 76:1103-1110, 2022
    DOI: 10.1038/s41430-022-01090-w  
  9. Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
    Kasugai Y, Kohmoto T, Taniyama Y, Koyanagi Y, Usui Y, Iwase M, et al.; Cancer Sci 113:1451-1462, 2022
    DOI: 10.1111/cas.15312  
  10. Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
    Mutai H, Momozawa Y, Kamatani Y, Nakano A, Sakamoto H, Takiguchi T, et al.; Orphanet J Rare Dis 17:114, 2022
    DOI: 10.1186/s13023-022-02262-4  
  11. Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross-sectional study.
    Abe K, Kitago M, Kosaki K, Yamada M, Iwasaki E, Kawasaki S, et al.; Cancer Sci 113:1821-1829, 2022
    DOI: 10.1111/cas.15316  
  12. Associations of Genome-Wide Polygenic Risk Score and Risk Factors With Hypertension in a Japanese Population.
    Fujii R, Hishida A, Nakatochi M, Tsuboi Y, Suzuki K, Kondo T, et al.; Circ Genom Precis Med 15:e003612, 2022
    DOI: 10.1161/CIRCGEN.121.003612   日本語解説: 藤田医科大学プレスリリース  
  13. Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
    Sano Y, Koyanagi Y, Wong JH, Murakami Y, Fujiwara K, Endo M, et al.; J Med Genet 59:1133-1138, 2022
    DOI: 10.1136/jmedgenet-2022-108428   日本語解説: AMEDプレスリリース  
  14. Genome-wide association study of platelet factor 4/heparin antibodies in heparin-induced thrombocytopenia.
    Giles JB, Steiner HE, Rollin J, Shaffer CM, Momozawa Y, Mushiroda T, et al.; Blood Adv 6:4137-4146, 2022
    DOI: 10.1182/bloodadvances.2022007673  
  15. Prognostic significance of pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancer.
    Kimura H, Mizuno K, Shiota M, Narita S, Terada N, Fujimoto N, et al.; Br J Cancer 127:1680-1690, 2022
    DOI: 10.1038/s41416-022-01915-2  
  16. Population-based Screening for Hereditary Colorectal Cancer Variants in Japan.
    Fujita M, Liu X, Iwasaki Y, Terao C, Mizukami K, Kawakami E, et al.; Clin Gastroenterol Hepatol 20:2132-2141.e9, 2022
    DOI: 10.1016/j.cgh.2020.12.007   日本語解説: 理研プレスリリース  
  17. Genetic polymorphism of pleiotrophin is associated with pain experience in Japanese adults: Case-control study.
    Saita K, Sumitani M, Nishizawa D, Tamura T, Ikeda K, Wakai K, et al.; Medicine 101:e30580, 2022
    DOI: 10.1097/MD.0000000000030580  
  18. Genetic architectures underlie onset age of atopic dermatitis
    Hikino K, Tanaka N, Koido M, Tomizuka K, Koike Y, Ito S, et al.; J Invest Dermatol 142:3337-3341.e7, 2022
    DOI: 10.1016/j.jid.2022.06.010   日本語解説: 理研プレスリリース  
  19. Blood Lipids and the Risk of Colorectal Cancer: Mendelian Randomization Analyses in the Japanese Consortium of Genetic Epidemiology Studies.
    Iwagami M, Goto A, Katagiri R, Sutoh S, Sutoh Y, Nakatochi M, et al.; Cancer prevention research 15:827-836, 2022
    DOI: 10.1158/1940-6207.CAPR-22-0146