Skip to main content

Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Table 3 Gene-specific methylation in peripheral blood DNA in breast cancer cases and controls investigated in more than one study

From: Blood-based DNA methylation as biomarker for breast cancer: a systematic review

Gene Author, year [ref]a Assay (value) Case no./control no. Case age/control age (y)b Meth (case) Meth (control) p value Main findings
BRCA1 Cho YH, 2015 [39] MethyLight (%) 1021/1036 na/na 12 10 >0.05 Higher frequency of methylated BRCA1 in BC patients was observed in all six studies.
  Gupta S, 2014 [37] MS-HRM (%) 66/36 48.8/56.1 22.7 5.6 0.03
  Bosviel R, 2012 [30] QMSP (%) 902/990 47.1/45.9 47.1 (46.1–48.1) 45.9 (45.0–46.8) 0.08
  Wong EM, 2011 [20] MS-HRM (%) 255/169 <40/<40 10.9 3.6 0.004
  Iwamoto T, 2011 [16] MSP (%) 200/200 50/50 21.5 13.5 0.045
  Cho YH, 2010 [27] MethyLight (%) 40/40 50.8/48.3 8 5 >0.05
  Snell C, 2008 [24] MethyLight (%) 7/7 35–51/35–51 42.9 14.3 <0.05
ATM Brennan K, 2012 [17] Pyrosequencing ATM (mvp2a)       Hypermethylation of ATM (intragenic repetitive element) in BC patients was observed in two studies.
   BGS cohort (mean and IQR) 249/248 54/54 76.8 (70.9–82.7) 76.4 (70.2–80.2) 0.02
   EPIC cohort (mean and IQR) 235/283 52/52 75.7 (70.0–80.8) 76.1 (70.5–80.6) 0.4
   KConFab cohort (mean and IQR) 156/210 50/60 81.8 (75.8–86.5) 76.9 (71.6–81.5) 4.87 × 10−6
   Pyrosequencing ATM (mvp2b)      
   BGS cohort (mean and IQR) 248/234 54/54 91.4 (85.6–95.0) 91.0 (87.0–94.8) 0.61
   EPIC cohort (mean and IQR) 240/287 52/52 92.3 (88.3–95.7) 92.2 (87.3–95.2) 0.36
   KConFab cohort (mean and IQR) 162/208 50/60 92.3 (82.4–96.5) 92.6 (87.2–96.3) 0.24
  Flanagan JM, 2009 [15] Pyrosequencing (mean and IQR) 190/190 62.8/62.8 91.4 (72.8–98.4) 89.8 (53.0–98.0) 0.002
IGF2 Harrison K, 2015 [41] Pyrosequencing (mean ± SD) 189/363 56/56 48.94 ± 5.61 48.15 ± 5.77 0.123 Two studies reported no significant differences in methylation of IGF2 between BC cases and healthy controls.
  Ito Y, 2008 [25] Pyrosequencing
(% of loss of methylation)
    
   EPIC-Norfolk cohort 228/460 60.5/60.3 6.6 6.3 0.91
   ABC cohort 338/84 52.6/43.2 5.6 7.1 0.65
CDH1 Cho YH, 2015 [39] MethyLight (%) 1021/1036 na/na 58 66 >0.05 Three studies observed no significant differences in methylation of CDH1 between BC cases and controls.
  Zmetakova I, 2013 [42] Pyrosequencing (mean ± SD) 34/50 41–90/20–78 9.64 ± 2.10 9.02 ± 1.60 0.698
  Cho YH, 2010 [27] MethyLight (%) 40/40 50.8/48.3 8 8 >0.05
ESR1 Zmetakova I, 2013 [42] Pyrosequencing (mean ± SD) 34/50 41–90/20–78 4.09 ± 1.44 3.22 ± 0.86 0.026 Zmetakova I et al. reported higher methylation of ESR1 in patients, while Widschwendter. M et al. observed no significant difference.
  Widschwendter M, 2008 [14] MethyLight (%) 320/676 50–74/50–74 12.2 13.5 0.645
SYK Zmetakova I, 2013 [42] Pyrosequencing (mean ± SD) 34/50 41–90/20–78 1.15 ± 0.44 1.06 ± 0.24 0.638 Both studies observed no significant differences in methylation of SYK between BC cases and controls.
  Widschwendter M, 2008 [14] MethyLight (%) 320/676 50–74/50–74 2.2 2.4 0.889
TIMP3 Zmetakova I, 2013 [42] Pyrosequencing 34/50 41–90/20–78 3.65 ± 2.55 2.50 ± 0.81 0.036 Zmetakova I et al. reported higher methylation of TIMP3 in patients, while Widschwendter. M et al. observed no significant difference.
  Widschwendter M, 2008 [14] MethyLight (%) 320/676 50–74/50–74 12.5 14.2 0.511
RARB Cho YH, 2015 [39] MethyLight (%) 1021/1036 na/na 33 39 >0.05 Two studies reported no significant differences in methylation of RARB between BC cases and healthy controls.
  Cho YH, 2010 [27] MethyLight (%) 40/40 50.8/48.3 10 10 >0.05
APC Zmetakova I, 2013 [42] Pyrosequencing (mean ± SD) 34/50 41–90/20–78 1.68 ± 1.04 1.28 ± 0.57 0.082 Two studies reported no significant differences in methylation of APC between BC cases and healthy controls.
  Cho YH, 2010 [27] MethyLight (%) 40/40 50.8/48.3 0 0 >0.05
RASSF1A Zmetakova I, 2013 [42] Pyrosequencing (mean ± SD) 34/50 41–90/20–78 1.00 ± 0.00 1.04 ± 0.28 0.475 Two studies reported no significant differences in methylation of RASSF1A between BC cases and healthy controls.
  Cho YH, 2010 [27] MethyLight (%) 40/40 50.8/48.3 8 3 >0.05
  1. na not available
  2. aAll studies were case–control study
  3. bAge indicates mean age or range