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Gene CDKN2A
Variant L32_L37del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CDKN2A L32_L37del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 32 to 37 (UniProt.org). L32_L37del has been identified in the scientific literature (PMID: 33050356), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A L32_L37del

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Transcript NM_000077.5
gDNA chr9:g.21974725_21974742del18
cDNA c.95_112del18
Protein p.L32_L37delLEAGAL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.3 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37delLEAGAL RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37del RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37delLEAGAL RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37delLEAGAL RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37delLEAGAL RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21971096_21971113del18 c.94_111del18 p.H32_E37delHDAARE RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21971096_21971113del18 c.94_111del18 p.H32_E37delHDAARE RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37del RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21971096_21971113del18 c.94_111del18 p.H32_E37delHDAARE RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21971096_21971113del18 c.94_111del18 p.H32_E37delHDAARE RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37del RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37del RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37delLEAGAL RefSeq GRCh38/hg38
NM_058195.4 chr9:g.21994221_21994238del18 c.98_115del18 p.E33_G38delEWAAPG RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974725_21974742del18 c.95_112del18 p.L32_L37del RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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...