Table 1.

Clinical implications of select DNA repair pathway alterations in bladder cancer.

Gene	Pathway	Cohort/Study Details	References
MRE11A	DSB repair	Low MRE11 staining associated with worse survival following RT for MIBC; no association between MRE11 levels and survival in cystectomy patients	[40,41,42]
ERCC1	NER	Low ERCC1 mRNA levels associated with improved survival in advanced/metastatic BC patients treated with cisplatin-based chemotherapy	[32]
		High nuclear ERCC1 staining associated with worse survival in metastatic BC patients treated with cisplatin-based chemotherapy	[33]
ERCC2	NER	Somatic ERCC2 missense mutations associated with improved pathologic response and survival in MIBC patients receiving neoadjuvant cisplatin-based chemotherapy followed by cystectomy	[43,44]
		Somatic ERCC2 missense mutations associated with decreased metastatic recurrence rate in MIBC patients receiving chemoradiotherapy	[45]
>1 gene	DSB repair, others	Alteration(s) in ATM, RB1, or FANCC associated with improved pathologic response in MIBC patients receiving neoadjuvant cisplatin-based chemotherapy followed by cystectomy	[46]
		Alteration(s) in ATM, ERCC2, FANCD2, PALB2, BRCA1, or BRCA2 associated with increased RFS in MIBC patients treated with cystectomy and peri-operative chemotherapy	[47]
		Alteration(s) in ≥1 of 20 DDR genes associated with trend towards decreased recurrence in MIBC patients treated with chemoradiotherapy	[45]

RT: radiation therapy; MIBC: muscle-invasive bladder cancer; BC: bladder cancer; RFS: recurrence-free survival; DDR: DNA damage response.