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Gene CDKN2A
Variant Y44fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A Y44fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 44 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). Y44fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y44 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A Y44fs

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Transcript NM_000077.5
gDNA chr9:g.(21974698_21974699)
cDNA c.(130_129)
Protein p.Y44fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_058197.4 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_058197 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_058197.5 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21974698_21974699) c.(130_129) p.Y44fs RefSeq GRCh38/hg38

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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 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 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 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
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 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 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 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 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in CDKN2A results in familial malignant melanoma syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
CDKN2A mutant pancreatic cancer no benefit Palbociclib Phase II Actionable In a Phase II trial (TAPUR), patients with pancreatic cancer harboring a CDKN2A mutation or loss of CDKN2A (n=10) did not demonstrate an objective response or stable disease at 16 weeks when treated with single therapy, Ibrance (palbociclib), demonstrating a median progression-free survival of 7.2 weeks and an overall survival of 12.4 weeks (JCO Precision Oncology, Aug 14, 2019; NCT02693535). detail...
CDKN2A mutant biliary tract cancer no benefit Palbociclib Phase II Actionable In a Phase II trial (TAPUR), patients with biliary cancer harboring a CDKN2A mutation or loss of CDKN2A (n=10) did not demonstrate an objective response or stable disease at 16 weeks when treated with single therapy, Ibrance (palbociclib), demonstrating a median progression-free survival of 7.3 weeks and an overall survival of 11.1 weeks (JCO Precision Oncology, Aug 14, 2019; NCT02693535). detail...
CDKN2A mutant skin melanoma not applicable N/A Guideline Risk Factor Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org). detail...