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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 (UniProt.org). 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 |
Transcript | NM_000077.4 |
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_011517676 | chr9:g.21971121G>A | c.238C>T | p.R80* | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971121G>A | c.238C>T | p.R80* | RefSeq | GRCh38/hg38 |
XM_005251343.1 | chr9:g.21970966_21970968delCGCinsTGA | c.238_240delCGCinsTGA | p.R80* | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971121G>A | c.238C>T | p.R80* | RefSeq | GRCh38/hg38 |
XM_011517679 | chr9:g.21970966_21970968delGCGinsTCA | c.238_240delCGCinsTGA | p.R80* | RefSeq | GRCh38/hg38 |
XM_011517679.1 | chr9:g.21970966_21970968delCGCinsTGA | c.238_240delCGCinsTGA | p.R80* | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971121G>A | c.238C>T | p.R80* | RefSeq | GRCh38/hg38 |
XM_011517676.2 | 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_005251343 | chr9:g.21970966_21970968delGCGinsTCA | c.238_240delCGCinsTGA | p.R80* | RefSeq | GRCh38/hg38 |
NM_000077.4 | 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 |
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 |
BRAF V600E CDKN2A R80* | skin melanoma | predicted - sensitive | Dabrafenib + Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with metastatic giant sarcomatoid melanoma harboring BRAF V600E and CDKN2A R80* achieved a partial response following four months of treatment with the combination of Tafinlar (dabrafenib) and Mekinist (trametinib), and reached a complete response with regression of lung and bone metastases after one year of treatment (PMID: 32922664). | 32922664 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A R80* | loss of function - predicted | CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor |
BRAF V600E CDKN2A R80* |