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Table 1 Patient and sample characteristics

From: BRCAness digitalMLPA profiling predicts benefit of intensified platinum-based chemotherapy in triple-negative and luminal-type breast cancer

A. Series 1 for development of the BRCA1 classifier

 

Training set

Validation set

N

%

N

%

Material type

 Fresh frozen

27

38

24

34

 FFPE

44

62

46

66

ER status

 ER neg

48

68

48

69

 ER pos

21

30

21

30

 Unknown

2

3

1

1

HER status

 HER2 neg

24

34

21

30

 HER2 pos

4

6

3

4

 Unknown

43

61

56

66

Array-based BRCA1-like classification

 Non-BRCA1-like

30

42

28

40

 BRCA1-like

41

58

42

60

Mutation status

 BRCA1mut

8

11

8

11

 BRCA2mut

2

3

3

4

 Unknown

61

86

59

84

BRCA1 promoter methylation

 Non-methylated

39

55

36

51

 BRCA1-methylated

14

20

12

17

 Unknown

18

25

22

31

B. Series 2 for development of the BRCA2 classifier

 

Training set

Validation set

N

%

N

%

Material type

 Fresh frozen

21

38

21

38

 FFPE

34

62

35

63

ER status

 ER neg

13

24

16

29

 ER pos

40

73

38

68

 Unknown

2

4

2

4

HER status

 HER2 neg

20

36

20

36

 HER2 pos

5

9

4

7

 Unknown

30

55

32

57

Array-based BRCA2-like classification

 Non-BRCA2-like

30

55

28

50

 BRCA2-like

25

46

28

50

Mutation status

 BRCA1mut

1

13

1

13

 BRCA2mut

7

88

7

88

 Unknown

47

 

48

 

C. Series 3 for assessing treatment prediction power

 

FEC

HD-CTC

Total

pvalue

n(%)

n(%)

n(%)

 

Age

 < 40

17 (32%)

20 (29%)

37 (30%)

0.84

 > 40

36 (68%)

49 (71%)

85 (70%)

 

ER status

 Neg

21 (40%)

22 (32%)

43 (35%)

0.45

 Pos

32 (60%)

47 (68%)

79 (65%)

 

PR status

 Neg

30 (57%)

28 (41%)

58 (48%)

0.10

 Pos

23 (43%)

41 (59%)

64 (52%)

 

pT-stage

 1

6 (11%)

16 (23%)

22 (18%)

0.03

 2

37 (70%)

49 (71%)

86 (70%)

 

 3

10 (19%)

4 (6%)

14 (11%)

 

Grade

 I

6 (12%)

13 (21%)

19 (17%)

0.17

 II

16 (31%)

25 (40%)

41 (35%)

 

 III

29 (57%)

25 (40%)

54 (47%)

 

No. of positive lymph nodes

 < 10

34 (64%)

47 (68%)

81 (66%)

0.70

 ≥ 10

19 (36%)

22 (32%)

41 (34%)

 

Array-based BRCA1-like classification

 Non-BRCA1-like

39 (74%)

56 (81%)

95 (78%)

0.38

 BRCA1-like

14 (26%)

13 (19%)

27 (22%)

 

Array-based BRCA2-like classification

 Non-BRCA2-like

40 (75%)

53 (77%)

93 (76%)

1.00

 BRCA2-like

13 (23%)

16 (23%)

29 (24%)

 

D. Clinical variables in patients included in the digitalMLPA analysis and in the total HER2-negative trial population

 

digitalMLPA tested,n(%)

digitalMLPA not tested,n(%)

pvalue

 

n

122

500

  

Age (median (SD))

44.00 (6.96)

44.67 (6.12)

0.28

 

Treatment

 CONV

53 (43.4)

249 (49.8)

0.25

 

 HD

69 (56.6)

251 (50.2)

  

ER status

 Negative (< 10%)

43 (35.2)

106 (21.2)

< 0.01

 

 Positive (≥ 10%)

79 (64.8)

393 (78.6)

  

 NA

0 (0.0)

1 (0.2)

  

PR status

 Negative (< 10%)

58 (47.5)

170 (34.0)

0.01

 

 Positive (≥ 10%)

64 (52.5)

319 (63.8)

  

 NA

0 (0.0)

11 (2.2)

  

pT-stage

 1

22 (18.0)

129 (25.8)

0.05

 

 2

86 (70.5)

290 (58.0)

  

 3

14 (11.5)

79 (15.8)

  

 NA

0 (0.0)

2 (0.4)

  

Grade

 Grade I

19 (15.6)

121 (24.2)

0.05

 

 Grade II

41 (33.6)

192 (38.4)

  

 Grade III

54 (44.3)

176 (35.2)

  

 NA

8 (6.6)

11 (2.2)

  

No. of positive lymph nodes

 LN < 10

81 (66.4)

324 (64.8)

0.82

 

 LN ≥ 10

41 (33.6)

176 (35.2)

  

Array-based BRCA1-like classification

 Non-BRCA1-like

95 (77.9)

115 (23.0)

0.05

 

 BRCA1-like

27 (22.1)

16 (3.2)

  

 NA

0 (0.0)

369 (73.8)

  

Array-based BRCA2-like classification

 Non-BRCA2-like

93 (76.2)

105 (21.0)

0.27

 

 BRCA2-like

29 (23.8)

22 (4.4)

  

 NA

0 (0.0)

373 (74.6)

  
  1. FFPE formalin-fixed, parafin-embedded, ER estrogen-receptor, PR progesterone receptor, pT-stage pathological Tumor size, FEC 5-fluorouracil-epirubicin-cyclophosphamide, HD-CTC high-dose cyclophosphamide-thiotepa-carboplatin, CONV conventional dose 5-fluorouracil-epirubicin-cyclophosphamide, HD high-dose cyclophosphamide-thiotepa-carboplatin, NA not available