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. 2021 Jan 6;11(10):2983–2994. doi: 10.1016/j.apsb.2021.01.003

Table 1.

Association of the main DDR alterations with patients’ response to ICI immunotherapy.

DDR pathway Genomic biomarker Tumor type Immune characteristics Clinical ICI response
DR MGMT promoter methylation Glioblastoma multiforme Temozolomide and ICIs (Nivolumab)62
BER MUTYH mutations Colorectal cancer Immune cell infiltration (NK cells, CD3+, CD8+ T cells) Not reported
NER ERCC mutations (ERCC1 SNPs), mutations of xeroderma pigmentosum (XP)-related genes ERCC mutations in NSCLC, XP-associated skin cancers Nivolumab63 (NSCLC with ERCC mutations), Pembrolizumab, nivolumab64-66 (XP-associated skin cancers)
MMR Mutations of MMR genes (MSH2, MSH6, MLH1, PMS2) Colon, gastric, endometrial, ovarian, prostate, glioma, breast cancers, etc. Immune cell infiltration, increased staining of PD-1, PD-L1 Several clinical trials regarding response of patients with MMR mutations to ICIs are underway or planned (Fig. 3)
HRR Mutations of HRR genes (BRCA1, BRCA2, PALB2, etc.) Breast, ovarian, prostate, etc. Immune cell infiltration (CD3+, CD8+ T cells), increased staining of PD-1, PD-L1 Several clinical trials regarding response of patients with HRR mutations to ICIs are underway or planned (Fig. 3)
POLD1/POLE proofreading POLD1/POLE mutations Endometrial, colon, etc. Immune cell infiltration (CD3+, CD8+ T cells), increased staining of PD-1, PD-L1 Several clinical trials are ongoing or planed (Fig. 3)