From: PARP inhibitor resistance: the underlying mechanisms and clinical implications
Gene | Primary mutations | Reversion mutations | Variant allele fraction | Cancer type | |
---|---|---|---|---|---|
plasma | tumor | ||||
BRCA1 | Q1756fs*74 (c.5266dupC) | Q1756_D1757 > PG (c.5263_5272 > TCCCCAGGAC) |  | 3.2% | HGPSCa |
BRCA1 | 1479delAG (c.1360_1361del) | s454_l467del (c.1361_1402del) | Â | Â | TNBCb |
BRCA2 | K2162fs*5 (c.6486_6489delACAA) | K2150fsa17 (c.6448_6473del26) | Â | 8% | mPCc |
BRCA2 | V1283fs*2 (c.3847_3848delGT) | D1280_N1288del (c.3838_3864del27) | 33% | 57% | Breast cancer |
BRCA2 | V1804Kfs (c.5410_5411del) | Y1480_A1896del (c.4434_5686delinsTT) | 0.60% | Â | mPCc |
BRCA2 | V1804Kfs (c.5410_5411del) | I1633_I2269del (c.4897_6807del) | 0.40% | 2.80% | mPCc |
BRCA2 | Q2960X (c.9106C > T) | Q2960E (c.9106C > G) |  | 67% | Breast cancer |
BRCA2 | E1493Vfs*9 (c.4705_4708delGAAA) | I1490_E1493del (c.4698-4709delAAATACTGAAAG) |  | 55–56% | HGPSCa |
BRCA2 | S1982fs (c.5946delT) | S1982_ A1996del (c.5946_5990del45) | Â | 1% | Prostate cancer |
BRCA2 | S1982fs (c.5946delT) | S1985fs (c.5949_5952dupAAAA) | Â | 0.5% | Prostate cancer |
BRCA2 | N1910fs*2 (5727_5728insG) | A1843_S1985del (5528_5956del429) | Â | 0.53% | prostate cancer |
BRCA2 | N1910fs*2 (5727_5728insG) | A1891_M1936del (5671_5808del138) | Â | 0.54% | prostate cancer |
BRCA2 | N1910fs*2 (5727_5728insG) | D1909_D1911 > EDY (5727_5731TAATG > AGACT) |  | 0.63% | prostate cancer |
BRCA2 | N1910fs*2 (5727_5728insG) | L1908_S1917del (5721_5750del30) | Â | 1.8% | prostate cancer |
BRCA2 | N1910fs*2 (5727_5728insG) | N1766_Q2009del (5292_6025 > CA) |  | 1.3% | prostate cancer |
BRCA2 | N1910fs*2 (5727_5728insG) | N1910_D1911del (5728_5733delAATGAT) | Â | 3.3% | prostate cancer |
BRCA2 | N1910fs*2 (5727_5728insG) | S1788_P2114 > DTT (5362_6340 > GATACCA) |  | 1.2% | prostate cancer |
BRCA2 | N1910fs*2 (5727_5728insG) | NA (splice site 5333_6841 + 197del1706) |  | 4.8% | prostate cancer |