Gene Variant Detail

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Gene CDKN2A
Variant R80*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A R80* results in a premature truncation of the Cdkn2a protein at amino acid 80 of 156. R80* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202).
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.21971121G>A
cDNA c.238C>T
Protein p.R80*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005251343 chr9:g.21970966_21970968delGCGinsTCA c.238_240delCGCinsTGA p.R80* RefSeq GRCh38/hg38
XM_011517679 chr9:g.21970966_21970968delGCGinsTCA c.238_240delCGCinsTGA p.R80* RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
NM_000077 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A R80* stomach carcinoma sensitive Palbociclib Preclinical - Cell line xenograft Actionable In a preclinical study, a gastric carcinoma cell line harboring CDKN2A R80* was sensitive to Ibrance (palbociclib) both in culture and in cell line xenograft models (PMID: 26380006, PMID: 20952405). 26380006 20952405
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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...
Molecular Profile Protein Effect Treatment Approaches
CDKN2A R80* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor