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CDKN2A
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Interpretation 319
Tier 2
CDKN2A
Variants
CDKN2A copy number loss
Primary Sites
Liver
Tumor Types
Hepatocellular Carcinoma
Interpretation

CDKN2A gene functions as an important tumor suppressor via induction of cell growth arrest and senescence. Majority of the CDKN2A mutations result in loss or decreased binding to CDK4/6 leading to uncontrolled cell growth through inactivation of Rb and p53 pathways. Somatic mutations of CDKN2A are present in various tumor types including ~2-3% of hepatocellular carcinoma (HCC). However, epigenetic silencing of CDKN2A by promoter hypermethylation is more frequent, occurring in 73% of HCC, 56% of HBV-related HCC, and 84% of HCV-related HCC. Clinical trials for CDKN2A deficient tumors are available. Correlation with other clinical and lab findings is necessary.

Citations
  1. Shibata T, et al. Exploration of liver cancer genomes. Nat Rev Gastroenterol Hepatol 2014;11(6):340-9
  2. Ahn SM, et al. Genomic portrait of resectable hepatocellular carcinomas: implications of RB1 and FGF19 aberrations for patient stratification. Hepatology 2014;60(6):1972-82
Last updated: 2016-11-04 00:46:32 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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