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Gene CDKN2A
Variant T77fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A T77fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at 77 of 156, likely resulting in a premature truncation of the functional protein (UniProt.org). T77fs has not been characterized, however, nonsense mutations downstream of T77 are inactivating (PMID: 9053859, PMID: 8668202), thus T77fs is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.(21971130_21971131)
cDNA c.(229_228)
Protein p.T77fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675 chr9:g.(21971130_21971131) c.(229_228) p.T77fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21971130_21971131) c.(229_228) p.T77fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21971130_21971131) c.(229_228) p.T77fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21971130_21971131) c.(229_228) p.T77fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A mutant lung non-small cell carcinoma sensitive Palbociclib Phase II Actionable In a Phase II trial (TAPUR), Ibrance (palbociclib) treatment resulted in a disease control rate of 29% (7/28, 1 partial response, 6 stable disease at 16 weeks) in patients with non-small cell lung cancer harboring CDKN2A loss or mutations, with a median progression-free survival of 9.7 weeks and a median overall survival of 20.6 months (J Clin Oncol 37, 2019 (suppl; abstr 9041); 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 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 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...
Molecular Profile Protein Effect Treatment Approaches
CDKN2A T77fs loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor