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CDKN2A
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Interpretation 304
Tier 2
CDKN2A
Variants
CDKN2A copy number loss
Primary Sites
Stomach
Tumor Types
Adenocarcinoma
Interpretation

CDKN2A generates several transcript variants including p16 and p14ARF. P16 regulates cell cycle by inhibiting CDK4 and CDK6, and thus preventing progression from G1 to S phase. P14ARF acts as a tumor suppressor by inhibiting ribosome biogenesis and initiating p53-dependent cell cycle arrest and apoptosis. Mutations and deletion of CDKN2A are reported in up to 34% of gastric cancer. In addition, EBV-positive gastric adenocarcinoma showed CDKN2A promoter hypermethylation. Gastric cancer with CDKN2A mutations has been shown to be sensitive to CDK4/6 inhibitors in vitro studies. However, predictive or prognostic significance of CDKN2A mutation in gastric cancer is not clear and correlation with other clinical and laboratory findings is necessary. Multiple clinical trials are available for patients with CDKN2A deficient tumors.

Citations
  1. Cancer Genome Atlas Research Network Comprehensive molecular characterization of gastric adenocarcinoma. Nature 2014;513(7517):202-9
  2. Huang S, et al. CDK4/6 inhibitor suppresses gastric cancer with CDKN2A mutation. Int J Clin Exp Med 2015;8(7):11692-700
Last updated: 2020-07-24 14:53:03 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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