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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)