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Table 4 Frequency of BRCA methylation (dichotomized results) in BRCA1/2-related and sporadic breast carcinomas by methylation-specific multiplex ligation-dependent probe amplification

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

Probe BRCA1-C, total n = 39 (%) BRCA2-C, total n = 33 (%) Sporadic-C, total n = 80 (%) Test statistica P-value Total (%) Cutoffb
BRCA1.1 0 (0) 2 (6.1) 11 (13.8) 5.833c 0.019* 13 (8.6) >15%
BRCA1.2 32 (82.1) 14 (42.4) 22 (27.5) 20.296c 0.000009* 68 (44.7) >17%
BRCA1.3 5 (12.8) 2 (6.1) 11 (13.8) 0.589c 0.465 18 (11.8) >15%
BRCA1 totald 32 (82.1) 14 (42.4) 22 (27.5) 20.296c 0.000009* 68 (44.7)  
BRCA2.1 30 (76.9) 18 (54.5) 10 (12.5) 47.117c 2.93°10−12* 58 (38.2) >19%
BRCA2.2 4 (10.3) 3 (9.1) 0 (0) 8.153e 0.005* 7 (4.6) >15%
BRCA2.3 22 (56.4) 14 (42.4) 2 (2.5) 45.600c 1.65°10−12* 38 (25) >15%
BRCA2.4 3 (7.7) 4 (12.1) 0 (0.0) 8.153e 0.005* 7 (4.6) >15%
BRCA2 totald 30 (76.9) 20 (60.6) 10 (12.5) 51.432c 0.029* 60 (39.5)  
  1. Abbreviations: BRCA1-C Breast carcinomas from BRCA1 germline mutation carriers, BRCA2-C Breast carcinomas from BRCA2 germline mutation carriers, Sporadic-C Sporadic breast carcinoma
  2. aPearson’s chi-square test or Fisher’s exact test for BRCA1-C and BRCA2-C together against Sporadic-C
  3. bCutoff based upon highest methylation percentage detected in normal breast tissue from nonmutation carriers
  4. cPearson’s chi-square test
  5. d BRCA1-C and BRCA2-C total entails the number (and percentage) of samples showing methylation in at least one of the BRCA1 or BRCA2 probes, respectively
  6. eFisher’s exact test
  7. *Statistically significant (two-sided p value <0.05)