Gene Variant Detail

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Gene CDKN2A
Variant del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions CDKN2A del indicates a deletion of the CDKN2A gene.
Associated Drug Resistance

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A del glioblastoma multiforme sensitive Palbociclib Preclinical - Pdx & cell culture Actionable In a preclinical study, Ibrance (palbociclib) inhibited proliferation of patient-derived glioblastoma cells harboring homozygous deletion of CDKN2A in culture and prolonged survival in patient-derived xenograft models (PMID: 22711607). 22711607
CDKN2A del lung cancer predicted - sensitive PF-00477736 + PF3644022 Preclinical - Cell line xenograft Actionable In a preclinical study, Chk1 inhibitor PF-477736 and MK2 inhibitor PF3644022 synergistically inhibited tumor growth in cell line xenograft models of CDKN2A-deleted lung cancer (PMID: 26140595). 26140595
CDKN2A del gastrointestinal stromal tumor no benefit Palbociclib Phase II Actionable In a Phase II trial, Ibrance (palbociclib) treatment did not demonstrated clinical efficacy in heavily pre-treated gastrointestinal stromal tumor patients harboring CDKN2A homozygous or heterozygous deletion, with 86.4% (19/22) of patients demonstrated progressive disease at 4 months (PMID: 30979737; NCT01907607). 30979737
EML4 - ALK CDKN2A del FGFR1 T141R SMAD4 Q83* pancreatic ductal adenocarcinoma predicted - resistant Crizotinib Case Reports/Case Series Actionable In a clinical case study, a pancreatic ductal adenocarcinoma patient harboring EML4-ALK along with CDKN2A deletion, FGFR1 T141R, SMAD4 Q83*, and a TP53 splice site mutation, experienced disease progression after 2 months of Xalkori (crizotinib) treatment, then received Alecensa (alectinib) and remained on treatment for at least 3 months (PMID: 28476735). 28476735
EML4 - ALK CDKN2A del FGFR1 T141R SMAD4 Q83* pancreatic ductal adenocarcinoma predicted - sensitive Alectinib Case Reports/Case Series Actionable In a clinical case study, a pancreatic ductal adenocarcinoma patient harboring EML4-ALK along with CDKN2A deletion, FGFR1 T141R, SMAD4 Q83*, and a TP53 splice site mutation, experienced disease progression after 2 months of Xalkori (crizotinib) treatment, then received Alecensa (alectinib) and remained on treatment for at least 3 months (PMID: 28476735). 28476735
CDKN2A del RB1 pos glioblastoma multiforme predicted - sensitive Ribociclib Phase 0 Actionable In a Phase 0 trial, Kisqali (ribociclib) demonstrated good CNS penetration and inhibited Rb1 phoaphorylation and tumor cell proliferation, resulted in a median progression-free survival of 9.7 week and an overall survival of 7.8 months in patients (n=6) with recurrent glioblastoma with intact Rb1 expression and harboring deletion of CDKN2A or amplification of CDK4 or CDK6 (PMID: 31285369; NCT02933736). 31285369