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Gene | CDKN2A |
Variant | G35_A36del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A G35_A36del results in the deletion of two amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 35 to 36 (UniProt.org). G35_A36del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A G35_A36del |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974724_21974729delCCCGCC |
cDNA | c.103_108delGGGGCG |
Protein | p.G35_A36delGA |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058195.4 | chr9:g.21994225_21994230delGCTGCC | c.103_108delGCAGCG | p.A35_A36delAA | RefSeq | GRCh38/hg38 |
NM_001363763.2 | chr9:g.21971098_21971103delCCGGGC | c.104_109delCCCGGG | p.A35_R36delAR | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
XM_047422598.1 | chr9:g.21971098_21971103delCCGGGC | c.104_109delCCCGGG | p.A35_R36delAR | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
XM_047422596.1 | chr9:g.21971098_21971103delCCGGGC | c.104_109delCCCGGG | p.A35_R36delAR | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36del | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
XM_047422597.1 | chr9:g.21971098_21971103delCCGGGC | c.104_109delCCCGGG | p.A35_R36delAR | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974724_21974729delCCCGCC | c.103_108delGGGGCG | p.G35_A36delGA | RefSeq | GRCh38/hg38 |
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 | 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... |
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... |