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Gene CDKN2A
Variant A143T
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CDKN2A A143T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A143T results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868) and suppresses IL3-independent growth similar to wild-type Cdkn2a in BCR-ABL1-expressing cells in culture (PMID: 34369425), and therefore, is predicted to have no effect on Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A A143T

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Transcript NM_000077.5
gDNA chr9:g.21970932C>T
cDNA c.427G>A
Protein p.A143T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.5 chr9:g.21970932C>T c.427G>A p.A143T RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21970932C>T c.427G>A p.A143T RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21970932C>T c.427G>A p.A143T RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21970932C>T c.427G>A p.A143T RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21970932C>T c.427G>A p.A143T RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21970932C>T c.427G>A p.A143T RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21970932C>T c.427G>A p.A143T RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21970932C>T c.427G>A p.A143T 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 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 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 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...