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Table 11 Frequency of BRCA methylation (dichotomized) in prophylactic mastectomies of BRCA1/2 germline mutation carriers by methylation-specific multiplex ligation-dependent probe amplification

From: BRCA promoter methylation in sporadic versus BRCA germline mutation-related breast cancers

Probe

BRCA1, total n = 5 (%)

BRCA2, total n = 4 (%)

Total, n = 9 (%)

Cutoffa

BRCA1.1

0 (0)

0 (0)

0 (0)

>15%

BRCA1.2

2 (40)

1 (25)

3 (30)

>17%

BRCA1.3

1 (20)

0 (0)

1 (11.1)

>15%

BRCA1 totalb

2 (40)

1 (25)

3 (30)

 

BRCA2.1

2 (40)

2 (50)

4 (44.4)

>19%

BRCA2.2

1 (20)

0 (0)

1 (11.1)

>15%

BRCA2.3

2 (50)

0 (0)

2 (22.2)

>15%

BRCA2.4

0 (0)

0 (0)

0 (0)

>15%

BRCA2 totalb

3 (60)

2 (50)

5 (55.5)

 
  1. aCutoff based upon highest methylation percentage detected in normal breast tissue from nonmutation carriers
  2. b BRCA1 and BRCA2 total entails the number and percentage of samples showing methylation in at least one of the BRCA1 or BRCA2 probes, respectively