Gene Variant Detail

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Gene CDKN2A
Variant E119*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A E119* results in a premature truncation of the Cdkn2a protein at amino acid 119 or 156 (UniProt.org). E119* has not been characterized, however, a nonsense mutation downstream of E119 is inactivating (PMID: 8668202), thus E119* is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.21971004C>A
cDNA c.355G>T
Protein p.E119*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676 chr9:g.21971004C>A c.355G>T p.E119* RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971004C>A c.355G>T p.E119* RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971004C>A c.355G>T p.E119* RefSeq GRCh38/hg38
NM_000077 chr9:g.21971004C>A c.355G>T p.E119* RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 lung non-small cell carcinoma sensitive Palbociclib Phase II Actionable In a Phase II trial (TAPUR), Ibrance (palbociclib) treatment resulted in a disease control rate of 29% (7/28, 1 partial response, 6 stable disease at 16 weeks) in patients with non-small cell lung cancer harboring CDKN2A loss or mutations, with a median progression-free survival of 9.7 weeks and a median overall survival of 20.6 months (J Clin Oncol 37, 2019 (suppl; abstr 9041); 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...
Molecular Profile Protein Effect Treatment Approaches
CDKN2A E119* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor