Table 1 Description of selected DNA-based signatures

From: Circulating tumor DNA reveals complex biological features with clinical relevance in metastatic breast cancer

Description

DNA-based signatures

Original RNA-based signatures

Name

DNA segments

N genes

PMID

References

Research-based Mammaprint

NKI70

149

60

11823860

46

Estrogen-regulated gene expression

Scorr_IE

166

754

16505416

47

TP53 mutational status

P53_Mut_Correlation

240

48

17150101

48

Genes up-regulated in Basal-like

GSEA_SMID_Basal_UP

232

648

18451135

49

Proliferation/cell cycle

Wirapati_Proliferation

112

355

18662380

50

Retinoblastoma loss of heterozygosity

RB-LOH

236

345

18782450

16

Research-based PAM50 Luminal A

Scorr_LumA_Correlation

197

50

19204204

15

Research-based PAM50 Luminal B

Scorr_LumB_Correlation

184

50

19204204

15

Research-based PAM50 HER2-enriched

Scorr_Her2_Correlation

66

50

19204204

15

Research-based PAM50 Basal-like

Scorr_Basal_Correlation

229

50

19204204

15

Glycolysis gene expression

Glycolysis_Signature

123

5

19291283

51

Luminal-related gene expresion

Luminal_Cluster

236

78

21214954

18

HER2 amplicon gene expression

HER2_Amplicon

34

19

21214954

18

TP53 mutational status in ER + 

P53_ER + 

89

29

21248301

52

P53null luminal mouse model

MM_p53null_Luminal

166

224

24220145

20

MYC amplified mouse model

MM_Myc

184

228

24220145

20

Estrogen receptor signaling

GP7_Estrogen_signaling

255

701

25109877

19

  1. The information for each of the 150 ctDNA-based signatures, including the weights of each DNA segment, can be found in Supplementary Data 11.