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Profile Name | BRIP1 Q554Hfs*35 |
Gene Variant Detail | |
Relevant Treatment Approaches | Olaparib |
Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|---|
BRIP1 Q554Hfs*35 | endometrial serous adenocarcinoma | predicted - sensitive | Olaparib | Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, Lynparza (olaparib) treatment resulted in rapid clinical improvement and an ongoing complete response 9 months after initiation of treatment in a patient with high-grade serous endometrial carcinoma harboring a BRIP1 Q554Hfs*35 mutation, who also harbored other genomic changes consistent with homologous recombination defects including loss of heterozygosity in BRCA2, MAP3K1, PIK3R1, PTCH1, and KDM6A (PMID: 32923896). | 32923896 |