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CDKN2A
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Interpretation 116
Tier 2
CDKN2A
Variants
CDKN2A W110*
CDKN2A Y129*
CDKN2A any frameshift
CDKN2A H83Y
CDKN2A codon(s) 58 frameshift
CDKN2A codon(s) 80 frameshift
CDKN2A D108H
Primary Sites
Lung
Tumor Types
Squamous Cell Carcinoma
Interpretation

Somatic mutations of CDKN2A are present in various tumor types, including, squamous cell carcinoma of the lung, clear cell sarcoma, head and neck cancer, melanoma and esophageal cancer. Majority of the CDKN2A mutations span exon 2 and result in loss or decreased binding to CDK4/6 leading to uncontrolled cell growth through inactivation of Rb and p53 pathways. Multiple preclinical and clinical studies are ongoing for CDKN2A deficient tumors in multiple tumor types.

Citations
  1. Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012;489(7417):519-25
  2. Hill VK, et al. The genetics of melanoma: recent advances. Annu Rev Genomics Hum Genet 2013;14():257-79
  3. Harinck F, et al. Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. J Med Genet 2012;49(6):362-5
  4. Lim AM, et al. Differential mechanisms of CDKN2A (p16) alteration in oral tongue squamous cell carcinomas and correlation with patient outcome. Int J Cancer 2014;135(4):887-95
  5. Purkait S, et al. CDKN2A deletion in pediatric versus adult glioblastomas and predictive value of p16 immunohistochemistry. Neuropathology 2013;33(4):405-12
Last updated: 2018-06-13 19:01:26 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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