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Whole Exome Sequencing Identifies a Novel Hedgehog-Interacting Protein G516R Mutation in Locally Advanced Papillary Thyroid Cancer

 Woo Kyung Lee  ;  Seul Gi Lee  ;  Seung Hyuk Yim  ;  Daham Kim  ;  Hyunji Kim  ;  Seonhyang Jeong  ;  Sang Geun Jung  ;  Young Suk Jo  ;  Jandee Lee 
 International Journal of Molecular Sciences, Vol.19(10) : 2867-2877, 2018 
Journal Title
 International Journal of Molecular Sciences 
Issue Date
hedgehog proteins ; neoplasm invasiveness ; thyroid cancer
Locally advanced thyroid cancer exhibits aggressive clinical features requiring extensive neck dissection. Therefore, it is important to identify changes in the tumor biology before local progression. Here, whole exome sequencing (WES) using tissues from locally advanced papillary thyroid cancer (PTC) presented a large number of single nucleotide variants (SNVs) in the metastatic lymph node (MLN), but not in normal tissues and primary tumors. Among those MLN-specific SNVs, a novel HHIP G516R (G1546A) mutation was also observed. Interestingly, in-depth analysis for exome sequencing data from the primary tumor presented altered nucleotide 'A' at a very low frequency indicating intra-tumor heterogeneity between the primary tumor and MLN. Computational prediction models such as PROVEAN and Polyphen suggested that HHIP G516R might affect protein function and stability. In vitro, HHIP G516R increased cell proliferation and promoted cell migration in thyroid cancer cells. HHIP G516R, a missense mutation, could be a representative example for the intra-tumor heterogeneity of locally advanced thyroid cancer, which can be a potential future therapeutic target for this disease.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
Yonsei Authors
Kim, Daham(김다함) ORCID logo https://orcid.org/0000-0003-1871-686X
Lee, Seul Gi(이슬기) ORCID logo https://orcid.org/0000-0003-3233-7823
Lee, Woo Kyung(이우경) ORCID logo https://orcid.org/0000-0002-6737-3173
Lee, Jan Dee(이잔디) ORCID logo https://orcid.org/0000-0003-4090-0049
Jeong, Seonhyang(정선향) ORCID logo https://orcid.org/0000-0002-5549-9182
Jo, Young Suk(조영석) ORCID logo https://orcid.org/0000-0001-9926-8389
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