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CDKN2A G67C
GeneCDKN2A
Variantmissense
Amino Acid ChangeG67C
Transcript ID (GRCh37/hg19)ENST00000498124
Codon67
Exon2
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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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.

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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