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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