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CDKN2A
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Interpretation 2149
Tier 2
CDKN2A
Variants
CDKN2A W110*
Primary Sites
Brain
Tumor Types
Glioblastoma
Astrocytoma, NOS
Astrocytoma, Anaplastic
Interpretation

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. W110* results in early truncation and confers a loss of function as demonstrated by loss of CDK binding and cell cycle control in culture. The clinicopathologic effects of the heterozygous rather than homozygous loss of CDKN2A in glial neoplasms remains to be further elucidated. The efficacy and toxicity profiles of these inhibitors in the context of a variety of cancer types are currently under evaluation in clinical trials.

Citations
  1. Brennan CW, et al. The somatic genomic landscape of glioblastoma. Cell 2013;155(2):462-77.
  2. Uniprot.org
  3. Arap W, Knudsen ES, Wang JY, Cavenee WK, Huang HJ. Point mutations can inactivate in vitro and in vivo activities of p16(INK4a)/CDKN2A in human glioma. Oncogene. 1997 Feb 6;14(5):603-9.
Last updated: 2018-03-30 16:06:22 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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