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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

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)    TNBCb
BRCA2 K2162fs*5 (c.6486_6489delACAA) K2150fsa17 (c.6448_6473del26)   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%   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)   1% Prostate cancer
BRCA2 S1982fs (c.5946delT) S1985fs (c.5949_5952dupAAAA)   0.5% Prostate cancer
BRCA2 N1910fs*2 (5727_5728insG) A1843_S1985del (5528_5956del429)   0.53% prostate cancer
BRCA2 N1910fs*2 (5727_5728insG) A1891_M1936del (5671_5808del138)   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)   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)   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
  1. *HGPSC: High-grade papillary serous carcinoma;
  2. *TNBC: triple-negative breast cancer
  3. * mPC: metastatic pancreatic cancer;
  4. NA: unknown