Gene Variant Detail

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Gene CDKN2A
Variant Y44Lfs*76
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A Y44Lfs*76 indicates a shift in the reading frame starting at amino acid 44 and terminating 76 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). Y44Lfs*76 has not been characterized, however, due to the effect of other truncation mutations downstream of Y44 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance

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Transcript NM_000077.4
gDNA chr9:g.21974699dupA
cDNA c.130dupT
Protein p.Y44Lfs*76
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_001195132 chr9:g.21974698_21974699insG c.129_130insC p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974697_21974698insTTGGGA c.130_131insTCCCAA p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_000077 chr9:g.21974698_21974699insG c.129_130insC p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
NM_058197 chr9:g.21974698_21974699insGGGGAG c.129_130insCTCCCC p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517675 chr9:g.21974698_21974699insG c.129_130insC p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974699dupA c.130dupT p.Y44Lfs*76 RefSeq GRCh38/hg38
XM_011517676 chr9:g.21974698_21974699insG c.129_130insC p.Y44Lfs*76 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 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...
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 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...
Molecular Profile Protein Effect Treatment Approaches
CDKN2A Y44Lfs*76 loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor