Gene Variant Detail

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Gene CDKN2A
Variant L130R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A L130R lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130R has been identified in sequencing studies (PMID: 25303977, PMID: 22156295), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2020).
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.21970970A>C
cDNA c.389T>G
Protein p.L130R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21970970A>C c.389T>G p.L130R RefSeq GRCh38/hg38
XM_011517675 chr9:g.21970970A>C c.389T>G p.L130R RefSeq GRCh38/hg38
NM_000077 chr9:g.21970970A>C c.389T>G p.L130R RefSeq GRCh38/hg38
XM_011517676 chr9:g.21970970A>C c.389T>G p.L130R RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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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 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 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 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 L130R unknown