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Table 1 Summary of the relationships between DDR defects and ICB response

From: Role of DNA repair defects in predicting immunotherapy response

DDR defects Tumor types Criteria Immunologic features ICB response
MSI/dMMR Colon, endometrial, gastric, ovarian Germline mutations in DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2 Increased TMB, neoantigen load, TILs, and expression of PD-1 or PD-L1 Patients with MMR-deficient tumors had improved response rate to anti-PD-1 therapy: NCT01876511
Ongoing trials: NCT02563002, NCT02912572, NCT02899793, NCT03150706, NCT03435107
HR defects Ovarian, breast, prostate, pancreatic Germline mutations in BRCA1 or BRCA2 Increased neoantigen load, TILs, and expression of PD-1 or PD-L1 ICB therapy in HR deficient cancers has shown conflicting results: NCT01772004, Refs. [71, 75]
Ongoing trials: NCT03025035, NCT03428802, NCT02571725, NCT03101280, NCT02849496
POLD1/POLE mutations Endometrial, colon, Germline mutations in POLD1 or POLE Increased TMB, neoantigen load, TILs, and effector cytokine levels Ongoing trials: NCT02912572, NCT02899793, NCT03150706, NCT03435107, NCT03428802
BER deficiency Colon, breast, endometrial Germline mutations in MUTYH Increased neoantigen load and PD-L1 expression Not reported
NER defects Lung Single nucleotide polymorphisms in ERCC1   Not reported