Table 1. DDR pathway alterations in cancers.

Reference	DDR pathway	Genomic alteration	Tumor type	Size of assessable cases	Prevalence
Hegi et al. (22)	DR	MGMT promoter methylation	Glioblastoma	206	45%
Ruemmele et al. (23)	MMR	Loss of MLH1, MSH2 and MSH6	Ampullary carcinoma	144	10%
Hampel et al. (24)	MMR	Mutations of MLH1, MSH2, MSH6, and PMS2	Colorectal cancer	1,066	13%
Hampel et al. (25)	MMR	Mutations of MLH1, MSH2, MSH6	Endometrial cancer	543	22%
TCGA, Kandoth et al. (26)	MMR	MLH1 promoter methylation	Endometrial cancer	373	MSI-H: 30%
TCGA (27)	MMR	hypermethylation at the MLH1 promoter	Gastric cancer	295	22%
Goumard et al. (28)	MMR	Mutations of MSH2 or MLH1	Hepatocellular carcinoma	122	MSI-H: 0%; MSI: 26.2%
Alsop et al. (29)	HRR	BRCA1/2 deficiency	Ovarian carcinoma	1,001	14%
Walsh et al. (30)	HRR	BRCA1/2 deficiency	Ovarian carcinomas	360	18%
Rennert eet al. (31)	HRR	BRCA1/2 deficiency	Breast cancer	1,545	10%
TCGA, Kandoth et al. (26)	BER	POLE mutation	Endometrial cancer	373	7%
TCGA (32)	BER	POLE mutation	Colorectal carcinoma	224	5.8%
Scarpitta et al. (33)	BER	MUTYH mutation	Male breast cancer	81	1.2%
Stoffel et al. (34)	BER	MUTYH mutation	Colorectal cancer	430	1.86%
Yap et al. (35)	NER	ERCC2 mutation	Muscle-invasive bladder cancer	43	7%
TCGA (36)	NER	ERCC2 mutation	Urothelial bladder carcinoma	131	12%

The column entitled “Size of assessable cases” refers to the number of all assessable cases enrolled in each study, including cases with or without the genomic alteration in the DDR pathway. The column entitled “Prevalence” refers to the proportion of the cases of the genomic alteration observed in all assessable cases. DDR, DNA damage repair; DR, direct reversal/repair; MMR, mismatch repair; HRR, homologous recombination repair; BER, base excision repair; NER, nucleotide excision repair.