Gene Variant Detail

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Gene CDKN2A
Variant M52L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A M52L lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52L has been identified in sequencing studies (PMID: 29970484, PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2020).
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.21971205T>G
cDNA c.154A>C
Protein p.M52L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21971205T>G c.154A>C p.M52L RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971205T>G c.154A>C p.M52L RefSeq GRCh38/hg38
NM_000077 chr9:g.21971205T>G c.154A>C p.M52L RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971205T>G c.154A>C p.M52L 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 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...
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...
Molecular Profile Protein Effect Treatment Approaches
CDKN2A M52L unknown