Molecular Profile Detail

Profile Name BRCA2 N136_L139del BRCA2 N136Ifs*16 BRCA2 V130_N136delinsD
Gene Variant Detail

BRCA2 N136_L139del (unknown)

BRCA2 N136Ifs*16 (loss of function - predicted)

BRCA2 V130_N136delinsD (unknown)

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
BRCA2 N136_L139del BRCA2 N136Ifs*16 BRCA2 V130_N136delinsD breast cancer predicted - resistant Talazoparib Case Reports/Case Series Actionable In a clinical case study, a patient with breast cancer harboring the germline mutation, BRCA2 N136Ifs*16, acquired two BRCA2 reversion mutations, V130_N136delinsD and N136_L139del, as detected in cell-free DNA post treatment with Paraplatin (carboplatin), and subsequently, did not respond to treatment with Talazoparib (BMN-673) (PMID: 28765325). 28765325
Clinical Trial Phase Therapies Title Recruitment Status