Table 2.

Non-urological cancer urine cell-free DNA liquid biopsy studies.^a

Cancer type	Cancer patients enrolled	Assessed biomarkers	ucfDNA analytical technique	Study purpose	Tumor mutation profiling comparison	Year	Reference
NSCLC	63	EGFR (L858R, T790M) mutations	ddPCR, NGS	Rociletinib (EGFR TKI) response	L858R: 75% sensitivity and 100% specificity  T790M: 72% sensitivity and 96% specificity	2016	Reckamp et al. (32)
NSCLC	9	EGFR mutations	ddPCR, NGS	Osimertinib (EGFR TKI) response	N/A	2017	Husain et al. (33)
NSCLC	150	KRAS mutation	ddPCR	Predicting mutations and outcomes	93% concordance with tissue	2018	Xie et al. (34)
NSCLC	81	EGFR mutations	ddPCR	Diagnosis and management	60% sensitivity and 100% specificity	2021	Satapathy et al. (35)
Breast	250	PIK3CA mutations	ddPCR	Detection, monitoring, disease relapse	91% sensitivity and 100% specificity	2020	Zuo et al. (7)
Breast	200	PIK3CA mutations	ddPCR	Treatment and disease relapse	77% sensitivity	2020	Zhang et al. (36)
Breast	300	PIK3CA and TP53 mutations	N/A	Cancer monitoring	97% concordance with tissue biopsy	2020	Guan et al.(37)
Colorectal	20	KRAS mutations	qPCR, RE-PCR	Cancer detection	95% sensitivity (200 μL fluid used)	2008	Su et al. (6)
Colorectal	92	cfDNA (SEPTIN9 & SDC2) methylation levels	qMSP	Cancer detection	70% sensitivity and 86% specificity	2021	Bach et al.(38)
Glioma	35	52 commonly mutated glioma genes, fragmentation patterns	WES, sWGS	Cancer detection	N/A	2021	Mouliere et al. (39)
Pancreatic	56	KRAS mutations	ddPCR	Cancer detection	42% sensitivity	2019	Terasawa et al. (40)

^aAbbreviations: NSCLC, non-small cell lung cancer; ddPCR, droplet digital PCR; NGS, next-generation sequencing; EGFR, epidermal growth factor receptor; cfDNA, cell-free DNA; qPCR, quantitative PCR; RE-PCR, restriction enriched polymerase chain reaction; qMSP, quantitative methylation specific PCR; WES, whole-exome sequencing; sWGS, shallow whole-genome sequencing; N/A, not performed.