Table 1 Genetic defects of DDR in cancer and DDR inhibitors

BER

APE1

SNP

[72]

OGG1

missense, frameshift, deletion, SNP

[73]

Pol β

frameshift, Splicing, missense

[74]

XRCC1

nonsense, missense, SNP

PARP, ATM, DNA-PKcs inhibitors

[75, 76]

Neil1

deletion, point mutation, SNP

[77]

NER

XPC

SNP

[78]

DDB1

missense, splicing, deletion

[79]

ERCC1

SNP

ATR, CHEK1 inhibitors

[37, 78]

ERCC2(XPD)

missense, SNP, homozygous deletion

[80, 81]

ERCC4(XPF)

missense

[79]

ERCC5(XPG)

missense

[79]

ERCC6

missense, nonsense, splicing

[79]

XPA

homozygous deletion, SNP

[79, 82]

MMR

MLH1

deletion, missense, nonsense, splicing

POLG, ATR inhibitor

[83, 84]

MSH2

deletion, nonsense, rearrangements

POLB inhibitor

[83,84,85]

MSH6

point mutation

DHFR, POLB, POLG inhibitor

[85, 86]

EPCAM

deletion

[85]

PMS2

point mutation

[85]

HRR

BRCA

truncating, missense, large rearrangements

PARP, APE1, ATM, DNA-PKcs inhibitors

[87,88,89]

RAD51(RAD51B, RAD51C, RAD51D)

frameshift indels, splicing, nonsense, missense.

PARP inhibitor

[90]

PALB2(FANCN)

frameshift, nonsense, splicing, deletion

PARP inhibitor

[91, 92]

XRCC2

SNP

[93]

XRCC3

SNP

[93]

MSH3

In-frame deletion, frameshift, missense

DNA-PKcs inhibitors

[94]

FA pathway

FANC genes

missense, deletion, frameshift, SNP

PARP inhibitor

[95, 96]

NHEJ

XRCC4

SNP

[97]

LIG4

SNP

PARP inhibitor

[98, 99]

Cycle checkpoints

ATR/Chk1

SNP, insertion, deletion

APE1, Wee1, ATM, Chk1 inhibitor

[43, 88, 100,101,102,103]

ATM/Chk2

SNP, nonsense, splicing, frameshift

DNA-PKcs, PARP, polθ, MEK inhibitors

[43, 103, 104]

Others

CDK12

deletion, missense, frameshift

PARP inhibitor

[105]

BAP1

truncating, missense

PARP inhibitor

[106]

P53

nonsense, missense

ATR, Chk inhibitor

[107, 108]

PTEN

Mutation, deletion

PARP inhibitor

[109]