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Table 1 Phenotypic and genotypic characterization of the HBOC cohort according to BRCA mutational status

From: Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

Variable

Mutational status

p-value&

BRCA pathogenica

BRCA Benign and VUSb

non-BRCA

n = 17

%

n = 65

%

n = 12

%

Gender

 Man

  

1

1.5

   

 Woman

17

18.1

64

98.5

12

100

 

Age at diagnosis (median)

24–57 (34)

22–72 (37)

31–47 (36.5)

 

Deaths

1

5.9

11

16.9

2

16.6

0.0927

Survival in years (median)

8

 

3

 

8

  

Familial history

       

 Present

14

82.3

52

80

10

83.3

0.294

 Absent

3

17.7

11

16.9

2

16.7

 NI

  

2

3.1

  

Tumor site

 Breast

17

100

57

87.7

12

100

0.6034

 Ovary

  

6

9.3

  

 Edometrium

  

1

1.5

  

 Stomach

  

1

1.5

  

Tumor distribution

 Unilateral or located

12

70.6

48

73.8

10

83.3

0.2376

 Bilateral (breast)

5

29.4

6

9.3

1

8.3

 Multiple tumors

  

5

7.7

  

 NI

  

6

9.3

1

8.3

Breast molecular subype

 Luminal

4

23.5

20

30.8

5

41.7

0.4425

 Luminal HER

2

11.8

11

16.9

3

25

 HER2

2

11.8

7

10.8

1

8.3

 TN

9

52.9

13

20

1

8.3

 PR

  

1

1.5

  

 NI

  

13

20

2

16.7

Tumor grade

 1

1

5.9

7

10.8

1

8.3

0.03686

 2

3

17.6

29

44.6

5

41.7

 3

11

64.7

11

16.9

4

33.3

 NI

2

11.8

18

27.7

2

16.7

Lymph node metastasis

 Present

7

41.2

31

47.7

7

58.3

0.1984

 Absent

8

47.1

16

24.6

3

25

 NI

2

11.8

18

27.7

2

16.7

Distant metastasis

 M0

1

5.9

38

58.5

7

58.3

0.1964

 M1

15

88.2

14

21.5

3

25

 NI

1

5.9

13

20

2

16.7

  1. aVariants previously characterized as pathogenic (ClinVar). bPatients carrying benign or variants of unknown significance on BRCA1/BRCA2 genes. &The association between the genotypes and the clinical characteristics were calculated using the Pearson’s X2 test. HER2 When the HER2 protein is overexpressed; TN Triple-negative, PR Positive for progesterone receptors, NI Not-informed
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BMC Medical Genomics

ISSN: 1755-8794

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