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Profile Name | CDKN2A mutant |
Gene Variant Detail | |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|---|
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... | |
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 | head and neck cancer | sensitive | Palbociclib | Phase II | Actionable | In a Phase II trial (TAPUR), Ibrance (palbociclib) treatment led to a disease control rate (DCR) of 40% (11/28), objective response rate (ORR) of 4% (1/28, 1 partial response), median progression-free survival (mPFS) of 11 weeks and median overall survival (mOS) of 42 weeks in patients with heavily pretreated head and neck cancer harboring CDKN2A alterations, and a DCR of 13% (5/40), ORR of 5% (2/40), mPFS of 8 weeks, and mOS of 26 weeks in patients with advanced solid tumors (PMID: 39413339; NCT02693535). | 39413339 |