Molecular Profile Detail


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Profile Name BRAF V600E CDKN2A R80*
Gene Variant Detail

BRAF V600E (gain of function)

CDKN2A R80* (loss of function - predicted)

Relevant Treatment Approaches


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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E CDKN2A R80* skin melanoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic giant sarcomatoid melanoma harboring BRAF V600E and CDKN2A R80* achieved a partial response following four months of treatment with the combination of Tafinlar (dabrafenib) and Mekinist (trametinib), and reached a complete response with regression of lung and bone metastases after one year of treatment (PMID: 32922664). 32922664
BRAF V600E CDKN2A R80* rhabdomyosarcoma predicted - sensitive Dabrafenib + Palbociclib + Trametinib Case Reports/Case Series Actionable In a clinical case study, the combination of Tafinlar (dabrafenib), Ibrance (palbociclib), and Mekinist (trametinib) resulted in a progression-free survival of 9 months in a patient with rhabdomyosarcoma harboring BRAF V600E and CDKN2A R80* (PMID: 33472910). 33472910