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Gene CDKN2A
Variant inact mut
Impact List unknown
Protein Effect loss of function
Gene Variant Descriptions CDKN2A inact mut indicates that this variant results in a loss of function of the Cdkn2a protein. However, the specific amino acid change has not been identified.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A inact mut lung non-small cell carcinoma predicted - sensitive Palbociclib Phase II Actionable In a Phase II trial (TAPUR), Ibrance (palbociclib) treatment resulted in a disease control rate of 31% with 1 partial response and 6 with stable disease at 16 weeks in patients with advanced or metastatic non-small cell lung cancer harboring CDKN2A loss or mutations (n=29), with a median progression-free survival of 8.1 weeks and a median overall survival of 21.6 weeks (PMID: 35050752; NCT02693535). 35050752
CDKN2A inact mut malignant spiradenoma predicted - sensitive Palbociclib Case Reports/Case Series Actionable In a Phase II trial (TAPUR), Ibrance (palbociclib) treatment resulted in decreased size of the pulmonary nodules and right hilar mass, decreased pleural thickening and mediastinal lymphadenopathy, and an overall response in a patient with metastatic spiradenocarcinoma harboring a CDKN2A nonsense mutation (PMID: 38899982; NCT02693535). 38899982
CDKN2A inact mut melanoma decreased response unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, treatment with an immune checkpoint inhibitor resulted in a decreased response in melanoma patients with homozygous deletion of CDKN2A or loss of function CDKN2A mutations compared to patients with wild-type CDKN2A in one cohort, with a lower overall survival (OS) of 27.2 mo vs not yet reached and time to treatment failure of 10 vs 20.1 mo, respectively, but in a second cohort, there were no significant differences in OS (PMID: 34074656). 34074656
CDKN2A inact mut lung non-small cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, homozygous deletion of CDKN2A or loss of function CDKN2A mutations in two cohorts of non-small cell lung cancer patients were not predictive of overall survival or time to treatment failure when treated with immune checkpoint inhibitors (PMID: 34074656). 34074656
CDKN2A inact mut bladder urothelial carcinoma decreased response unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, treatment with an immune checkpoint inhibitor resulted in a decreased response in urothelial carcinoma patients with either homozygous deletion of CDKN2A or loss of function CDKN2A mutations compared to those patients with wild-type CDKN2A in two different cohorts, with an overall survival for each cohort of 8.8 and 11 mo. versus 25.2 and 19 mo, respectively, and time to treatment failure of 4.2 mo. versus 8.4 mo., respectively, in one cohort (PMID: 34074656). 34074656
CDKN2A inact mut renal cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, homozygous deletion of CDKN2A or loss of function CDKN2A mutations in one cohort of renal cell carcinoma patients were not predictive of overall survival or time to treatment failure when treated with immune checkpoint inhibitors, but in another cohort were significantly associated with reduced overall survival compared to wild-type CDNK2A (13 months vs 50 months, P=0.002)(PMID: 34074656). 34074656
CDKN2A inact mut head and neck squamous cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, homozygous deletion of CDKN2A or loss of function CDKN2A mutations in two cohorts of head and neck squamous cell carcinoma patients were not predictive of overall survival or time to treatment failure when treated with immune checkpoint inhibitors (PMID: 34074656). 34074656
CDKN2A inact mut gastroesophageal cancer not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, homozygous deletion of CDKN2A or loss of function CDKN2A mutations in one cohort of esophagogastric cancer patients were not predictive of overall survival or time to treatment failure when treated with immune checkpoint inhibitors, but in another cohort were significantly associated with reduced overall survival compared to wild-type CDKN2A (8 months vs 17 months, P=0.006) (PMID: 34074656). 34074656