Table 2 BRCA1 promoter hypermethylation and BRCA1-null frequency in TNBC.

From: Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers

 

BRCA1 hypermethylated (n = 57)

BRCA1-null (n = 25)a

BRCA1 non-altered (n = 155)

Total SCAN-B cohort (n = 237)b

24.1%

10.5%

65.4%

Primary disease only (n = 231)

24.2%

10.4%

65.4%

Age

    <50 years (n = 52)

46.2%

19.2%

34.6%

    50–70 years (n = 108)

25.0%

12.0%

63.0%

    ≥70 years (n = 77)

7.8%

2.6%

89.6%

Tumor size

    ≤20 mm (n = 120)

27.5%

10.8%

61.7%

    >20 mm (n = 117)

20.5%

10.3%

69.2%

Nodal status

    Node negative (n = 153)

26.1%

7.8%

66.0%

    Node positive (n = 81)

19.8%

14.8%

65.4%

Tumor grade

    Grade 2 (n = 28)

0%

0%

100%

    Grade 3 (n = 204)

27.5%

11.8%

60.8%

ER-staining positivity

    <1% (n = 206)

24.8%

10.2%

65.0%

    1–10% (n = 29)

20.7%

13.8%

65.5%

Adjuvant therapyc

    Chemotherapy (n = 149, IDFS)

28.9%

12.8%

58.4%

    Untreated (n = 50)

12.0%

2.0%

86.0%

PAM50 subtypes61

    Basal-like (n = 183)

30.1%

13.1%

56.8%

    HER2-enriched (n = 31)

3.2%

3.2%

93.5%

    Luminal A (n = 0)

0%

0%

0%

    Luminal B (n = 1)

0%

0%

100%

    Normal-like (n = 22)

4.5%

0%

95.5%

TNBC molecular subtypes63

    Basal-like 1 (BL1, n = 46)

39.1%

13.0%

47.8%

    Basal-like 2 (BL2, n = 23)

17.4%

8.7%

73.9%

    Immunomodulatory (IM, n = 46)

19.6%

13.0%

67.4%

    Luminal androgen receptor (LAR, n = 30)

0%

0%

100%

    Mesenchymal (M, n = 41)

26.8%

12.2%

61.0%

    Mesenchymal stem-like (MSL, n = 14)

28.6%

7.1%

64.3%

IntClust 10 molecular subgroups62

    10 (n = 148)

33.8%

12.2%

54.1%

    9 (n = 13)

15.4%

15.4%

69.2%

    4 (n = 57)

7.0%

5.3%

87.7%

    1 (n = 2)

0%

0%

100%

    3 (n = 5)

0%

0%

100%

    5 (n = 2)

0%

0%

100%

    8 (n = 1)

0%

0%

100%

CIT molecular subtypes29

    Basal-like (basL, n = 175)

31.4%

12.0%

56.6%

    Molecular apocrine (mApo, n = 46)

2.2%

4.3%

93.5%

    Luminal B (n = 1)

0%

0%

100%

    Luminal C (n = 2)

0%

0%

100%

    Normal-like (n = 4)

0%

0%

100%

  1. Proportions calculated excluding missing data. Clinical data obtained from the Swedish national breast cancer quality registry.
  2. aBRCA1-null includes both germline and somatic cases.
  3. bNumbers for each reported group are provided for reference.
  4. cOnly includes cases eligible for outcome analysis by invasive disease-free survival (IDFS).
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