4.2 Article

Establishing a human adrenocortical carcinoma (ACC)-specific gene mutation signature

Journal

CANCER GENETICS
Volume 230, Issue -, Pages 1-12

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.cancergen.2018.10.005

Keywords

Adrenal gland; CRIPAK; DGKZ; LRIG1; Oncogene; ZFPM1; Zinc finger

Funding

  1. Hanyang University
  2. National Research Foundation of Korea (NRF) - Ministry of Education [2015R1D1A1A01057243, 201681D1A1B03932599]
  3. National Research Foundation of Korea [2015R1D1A1A01057243] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)

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Adrenocortical carcinoma (ACC) is a rare and aggressive tumor whose molecular signaling pathways are not fully understood. Using an in-silico clinical data analysis approach we retrieved human gene mutation data from the highly reputed Cancer Genome Atlas (TCGA). ACC-specific gene mutations were correlated with proliferation marker FAM72 expression and Mutsig along with the algorithmic implementation of the 20/20 rule were used to validate their oncogenic potential. The newly identified oncogenic driver gene set (ZFPM1, LRIG1, CRIPAK, ZNF517, GARS and DGKZ), specifically and most repeatedly mutated in ACC, is involved in tumor suppression and cellular proliferation and thus could be useful for the prognosis and development of therapeutic approaches for the treatment of ACC.

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