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Table 1 Reversion mutations (variant allele fraction > 0.5%) conferred resistance to PARPi resistance

From: PARP inhibitor resistance: the underlying mechanisms and clinical implications

GenePrimary mutationsReversion mutationsVariant allele fractionCancer type
plasmatumor
BRCA1Q1756fs*74 (c.5266dupC)Q1756_D1757 > PG (c.5263_5272 > TCCCCAGGAC) 3.2%HGPSCa
BRCA11479delAG (c.1360_1361del)s454_l467del (c.1361_1402del)  TNBCb
BRCA2K2162fs*5 (c.6486_6489delACAA)K2150fsa17 (c.6448_6473del26) 8%mPCc
BRCA2V1283fs*2 (c.3847_3848delGT)D1280_N1288del (c.3838_3864del27)33%57%Breast cancer
BRCA2V1804Kfs (c.5410_5411del)Y1480_A1896del (c.4434_5686delinsTT)0.60% mPCc
BRCA2V1804Kfs (c.5410_5411del)I1633_I2269del (c.4897_6807del)0.40%2.80%mPCc
BRCA2Q2960X (c.9106C > T)Q2960E (c.9106C > G) 67%Breast cancer
BRCA2E1493Vfs*9 (c.4705_4708delGAAA)I1490_E1493del (c.4698-4709delAAATACTGAAAG) 55–56%HGPSCa
BRCA2S1982fs (c.5946delT)S1982_ A1996del (c.5946_5990del45) 1%Prostate cancer
BRCA2S1982fs (c.5946delT)S1985fs (c.5949_5952dupAAAA) 0.5%Prostate cancer
BRCA2N1910fs*2 (5727_5728insG)A1843_S1985del (5528_5956del429) 0.53%prostate cancer
BRCA2N1910fs*2 (5727_5728insG)A1891_M1936del (5671_5808del138) 0.54%prostate cancer
BRCA2N1910fs*2 (5727_5728insG)D1909_D1911 > EDY (5727_5731TAATG > AGACT) 0.63%prostate cancer
BRCA2N1910fs*2 (5727_5728insG)L1908_S1917del (5721_5750del30) 1.8%prostate cancer
BRCA2N1910fs*2 (5727_5728insG)N1766_Q2009del (5292_6025 > CA) 1.3%prostate cancer
BRCA2N1910fs*2 (5727_5728insG)N1910_D1911del (5728_5733delAATGAT) 3.3%prostate cancer
BRCA2N1910fs*2 (5727_5728insG)S1788_P2114 > DTT (5362_6340 > GATACCA) 1.2%prostate cancer
BRCA2N1910fs*2 (5727_5728insG)NA (splice site 5333_6841 + 197del1706) 4.8%prostate cancer
  1. *HGPSC: High-grade papillary serous carcinoma;
  2. *TNBC: triple-negative breast cancer
  3. * mPC: metastatic pancreatic cancer;
  4. NA: unknown