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CDKN2A D84V
GeneCDKN2A
Variantmissense
Amino Acid ChangeD84V
Transcript ID (GRCh37/hg19)ENST00000498124
Codon84
Exon2
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 2
CDKN2A
Variants
CDKN2A D84V
Primary Sites
Lung
Unknown
Skin
Tumor Types
Adenosarcoma
Squamous Cell Carcinoma
Melanoma
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. The D84V mutant is predicted to confer loss of function to the CDKN2A protein as demonstrated by an inability to bind and inhibit the cyclin-dependent kinases CDK4 and CDK6. Multiple preclinical and clinical studies are ongoing for CDKN2A deficient tumors in multiple tumor types.

Last updated: 2019-07-15 15:41:03 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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