Table 1.
Characteristics of Selected Studies of Promoter Methylation Detected in Tissue
| Reference | Type of tumor (Number of cases) | Genes | Methylation Frequency | CoverageA |
|---|---|---|---|---|
| Fackler et al (46)B | LCIS (n=13) |
RASSF1A HIN-1 RARβ CCND2 TWIST |
62% 46% 46% 23% 23% |
69% |
| ILC (n=19) |
RASSF1A HIN-1 RARβ CCND2 TWIST |
84% 79% 21% 32% 16% |
100% | |
| DCIS (n=44) |
RASSF1A HIN-1 RARβ CCND2 TWIST |
75% 68% 48% 32% 27% |
95% | |
| IDC (n=27) |
RASSF1A HIN-1 RARβ CCND2 TWIST |
70% 60% 41% 52% 56% |
100% | |
| Fackler et al (24)C | Cases (n=19) (n=21) (n=21) (n=21) |
RASSFIA TWIST CCND2 HIN-1 |
68% 67% 57% 57% |
84% |
| Controls (n=28) (n=18) (n=14) (n=16) |
RASSFIA TWIST CCND2 HIN-1 |
7% 6% 14% 7% |
||
| Parella et al (47)B | Cases (n=54) (44 IDC, 10 ILC) |
BRCA1 P16 ESR1 GSTP1 TRβ2 RARβ2 HIC1 APC CCND2 CDH1 |
17% 18% 46% 13% 28% 20% 48% 28% 11% 39% |
85% |
| BBD (n=10) |
BRCA1 P16 ESR1 GSTP1 TRβ2 RARβ2 HIC1 APC CCND2 CDH1 |
20% 20% 40% 0 0 0 30% 10% 0 0 |
||
| Jeronimo et al (48)B | Cases (n=27) |
CDH1 GSTP1 BRCA1 RARβ2 |
66% 58% 40% 34% |
88% |
| Tao et al (49)C | Cases (n=803) |
CDH1 p16 RARβ2 |
20% 26% 28% |
60% |
| Shinozaki et al (50)B | Cases (n=151) |
RASSF1A APC TWIST CDH1 GSTP1 RARβ2 |
81% 49% 48% 53% 21% 24% |
Not Calculated (at least 81%) |
| Controls (n=10) |
All genes | 0 | ||
| Li et al (51)B | Cases (n=193) |
RARβ2 CDH1 ESR1 BRCA1 CCND2 p16 TWIST |
26% 80% 84% 41% 11% 14% 59% |
Not Calculated (at least 84%) |
A
Coverage, percentage of cases having methylation of at least one gene in the given gene panel (i.e. coverage of 100% means that all samples had methylation of at least one gene in the study’s panel); LCIS, lobular carcinoma in situ; ILC, invasive lobular carcinoma; DCIS, ductal carcinoma in situ; IDC, invasive ductal carcinoma; BBD, benign breast disease.
B
Methylation analysis was conducted using methylation specific PCR (MSP).
C
Methylation analysis was conducted using quantitative real-time methylation specific PCR (QMSP).