Xie, H. J. Bae, H. J. Noh, J. H. Eun, J. W. Kim, J. K. Jung, K. H. Ryu, J. C. Ahn, Y. M. Kim, S. Y. Lee, S. H. Yoo, N. J. Lee, J. Y. Park, W. S. Nam, S. W. 2024-01-20T21:34:58Z 2024-01-20T21:34:58Z 2021-09-01 2009-04 0028-2685 https://pubs.kist.re.kr/handle/201004/132637 The Janus kinase 1 (JAK1) gene encodes a cytoplasmic tyrosine kinase that is noncovalently associated with a variety of cytokine receptors and plays a nonredundant role in cell proliferation, survival, and differentiation. The mutated forms of JAK1 often altered the activation of JAK1 and then changed the activation of JAK1/STAT pathways, and this may contribute to cancer development and progression. Thus, to investigate whether genetic mutations of JAK1 gene are associated in hepatocellular carcinoma (HCC) progression, we analyzed genetic alterations of JAK1 gene in 84 human HCCs by single-strand conformational polymorphism (SSCP) and direct sequencing. Of 24 exons of JAK1 gene, 12 exons were previously reported to have mutations, we searched genetic alteration of JAK1 in these exons. Overall, one missense mutation (1.2%) was found. In addition, 12 cases (14%) were found to have single nucleotide polymorphism (14%) in exon 14. Taken together, we found one novel missense mutation of JAK1 gene in hepatocellular carcinomas with some polymorphisms. Although the functional assessment of this novel mutant remains to be completed, JAK1 mutation may contribute to the tumor development in liver cancer. English AEPRESS SRO PSEUDOKINASE DOMAIN JAK/STAT PATHWAY INTERFERON-ALPHA CANCER-CELLS RECEPTOR STATS ACTIVATION KINASE INHIBITION GROWTH Mutational analysis of JAK1 gene in human hepatocellular carcinoma Article 10.4149/neo_2009_02_136 1 NEOPLASMA, v.56, no.2, pp.136 - 140 NEOPLASMA 56 2 136 140 scie scopus 000263775100009 2-s2.0-65649096940 Oncology Oncology Article PSEUDOKINASE DOMAIN JAK/STAT PATHWAY INTERFERON-ALPHA CANCER-CELLS RECEPTOR STATS ACTIVATION KINASE INHIBITION GROWTH JAK1 gene hepatocellular carcinoma mutation