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CDKN2A
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Interpretation 2133
Tier 2
CDKN2A
Variants
CDKN2A H83Y
Primary Sites
Brain
Brain, Infratentorial
Brain, Supratentorial
Tumor Types
Glioblastoma
Interpretation

CDKN2A H83Y lies within the ANK3 domain of the CDKN2A protein. H83Y confers a loss of function to the CDKN2A protein as demonstrated by loss of cell cycle control. The CDKN2A gene locus is altered in up to approximately 57% of glioblastoma, most commonly as a homozygous deletion, and frequently with concurrent deletion of the CDKN2B locus. CDKN2A/CDKN2B loss may be associated with increased sensitivity to CDK4/6 inhibitors. The efficacy and toxicity profiles of these inhibitors in the context of a variety of cancer types are currently under evaluation in clinical trials. CDKN2A mutations account for only 1-3% of glioblastomas and the clinical significance remains to be elucidated.

Citations
  1. Uniprot.org
  2. Yarbrough WG, Buckmire RA, Bessho M, Liu ET. Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors. J Natl Cancer Inst. 1999 Sep 15;91(18):1569-74.
  3. Brennan CW, et al. The somatic genomic landscape of glioblastoma. Cell 2013;155(2):462-77
  4. Cbioportal.org
Last updated: 2018-03-06 18:01:48 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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