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CDKN2A
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Interpretation 2353
Tier 2
CDKN2A
Variants
CDKN2A G67C
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

CDKN2A gene functions as an important tumour suppressor in various human malignancies and somatic mutations in this gene are present in various tumor types, including, lung adenocarcinoma, squamous cell carcinoma of the larynx, clear cell sarcoma, head and neck cancer, melanoma and esophageal cancer, among other cancer types. 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. This particular variant G67C is considered to be likely pathogenic based on the known pathogenicity of G67R/S. 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
  6. OncoKB. https://oncokb.org/gene/CDKN2A/G67C
Last updated: 2019-07-15 15:40:29 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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