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Table 3 DNA methylation biomarkers and their potential clinical applications

From: Pan-cancer patterns of DNA methylation

Biomarker name

Cancer type

Tissue detected

Risk

  

BRCA1 DNAm signature (1,829 CpGs)

Breast

Whole blood DNA [65]

140 variable CpGs

Cervical

Normal uterine cervix cells [58]

Diagnosis

  

GSTP1

Prostate

Serum, urine, ejaculate [70]

APC, EDNRB, GSTP1

Prostate

Urine [71]

CDKN2A, ARF, MGMT, GSTP1

Prostate

Urine [72]

GSTP1, APC, PTGS2

Prostate

Paraffin-embedded tissues [110]

SETP9

Colorectal

Blood plasma [77]

APC, MGMT, RASSF2A, WIF1

Colorectal

Blood plasma [78]

SHOX2

NSCLC

Bronchial fluid aspirates/ blood plasma [76]

CDKN2A, MGMT

NSCLC

Sputum [74]

CCND2, RASSF1A, APC, HIN1

Breast

Fine needle aspiration biopsy [111]

ZNF154, HOXA9, POU4F2, EOMES

Bladder

Urine [112]

Prognosis

  

20-gene signature

ALL

Leukemic cells from bone marrow and peripheral blood [88]

15-gene classifier

AML

 

RASSF1A, APC

Breast

Serum [82]

ZAP70

CLL

CD19 sorted mononuclear cells [80]

CDKN2A

CCR

Blood plasma [81]

DAPK1

Head and neck

Tumor samples [84]

DAPK1

NSCLC

Tumor samples [83]

CDKN2A, RASSF1A, CDH13, APC

NSCLC

Primary tumors and lymph nodes [85]

HIST1H4F, PCDHGB6, NPBWR1, ALX1, HOX9

NSCLC

Tumor samples [89]

ALDH1A, OSR2, GATA4, GRIA4, IRX4

OPSCC

Tumor samples [59]

GSTP1, APC, PTGS2

Prostate

Tumor samples [110]

Response to therapy

  

BRCA1

Breast

Tumor samples [92],[93]

BCL2

Breast

Tumor samples [113]

PITX2

Breast

Tumor samples [114]

TFAP2E

Colon

Tumor samples [115]

MGMT

Glioma

Tumor samples [90],[91]

APAF1

Melanoma

Tumor samples/cell lines [116]

IGFBP3

NSCLC

Tumor samples/cell lines [117]

BRCA1

Ovary

Tumor samples [94]

  1. ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia; CCR, colorectal cancer; CLL, chronic lymphocytic leukemia; DNAm, DNA methylation; NSCLC, non-small-cell lung cancer; OPSCC, oropharyngeal squamous cell carcinoma.