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Ref Type
PMID (32923896)
Authors Nakamura K, Aimono E, Tanishima S, Imai M, Nagatsuma AK, Hayashi H, Yoshimura Y, Nakayama K, Kyo S, Nishihara H
Title Olaparib Monotherapy for BRIP1-Mutated High-Grade Serous Endometrial Cancer.
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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRIP1 Q554Hfs*35 endometrial serous adenocarcinoma predicted - sensitive 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