CDKN2A E69G
Gene Variant Detail

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Gene CDKN2A
Variant E69G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A E69G lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). The functional effect of E69G is conflicting as it results in loss of Cdk4 and Cdk6 binding and aberrant proliferation of cells in culture (PMID: 19260062, PMID: 20340136), but inhibits proliferation and cell cycle progression similar to wild-type protein in another study (PMID: 35001868), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A E69G

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Transcript NM_000077.5
gDNA chr9:g.21971153T>C
cDNA c.206A>G
Protein p.E69G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517679 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_000077 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_005251343 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517679.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_005251343.1 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21971000T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971153T>C c.206A>G p.E69G RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21971000T>C c.206A>G p.E69G 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 head and neck cancer sensitive Palbociclib Phase II Actionable In a Phase II trial (TAPUR), Ibrance (palbociclib) treatment led to a disease control rate (DCR) of 40% (11/28), objective response rate (ORR) of 4% (1/28, 1 partial response), median progression-free survival (mPFS) of 11 weeks and median overall survival (mOS) of 42 weeks in patients with heavily pretreated head and neck cancer harboring CDKN2A alterations, and a DCR of 13% (5/40), ORR of 5% (2/40), mPFS of 8 weeks, and mOS of 26 weeks in patients with advanced solid tumors (PMID: 39413339; NCT02693535). 39413339
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...