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Table 1 Characteristics of the studied individuals

From: Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals

 

BrCa

Bil. BrCa

OvCa

BrCa and OvCa

Non-affected

Number of index individuals (n = 82)

57

8

1

5

11

Age at diagnosis

     

(BrCa/OvCa)

n = 57

n = 16a

n = 1

n = 10b

-

<30

13

0

0

1

-

<40 years

11

2

0

2

-

<50 years

15

7

0

2

-

≥50 years

18

7

1

5

-

Type of BrCa

n = 57

n = 16a

-

n = 5

-

Ductal

41

8

-

5

-

Intraductal

2

2

-

0

-

Lobular

9

3

-

0

-

Papillary

1

0

-

0

-

Medullary

1

0

-

0

-

Unknown

3

3

-

0

-

Ductal carcinomas grade known

n = 38

n = 6

 

n = 5

-

Grade 1

7

3

 

0

-

Grade 2

14

3

 

3

-

Grade 3

17

0

 

2

-

ER status known

n = 51

n = 11

-

n = 4

-

ER +

35

10

-

2

-

ER-

16

1

-

2

-

PR status known

n = 50

n = 11

-

n = 4

-

PR+

30

10

-

2

-

PR-

20

1

-

2

-

HER2, status known

n = 46

n = 11

-

n = 4

-

HER2+

14

1

-

1

-

HER2-

32

10

-

3

-

Type of OvCa

-

-

n = 1

n = 5

-

Serous

-

-

0

0

-

Endometrioid

-

-

0

0

-

Mucinous

-

-

0

2

-

Clear cell

-

-

0

1

-

Other

-

-

0

2

-

Unknown

-

-

1

0

-

Number of affected (BrCa/OvCa)

     

first-degree relatives

n = 57

n = 8

n = 1

n = 5

n = 11

≥2

25

3

1

0

5

≥1

24

4

0

0

6

0

8

1

0

5

0

Number of affected (BrCa/OvCa)

     

second-degree relatives

n = 57

n = 8

n = 1

n = 5

n = 11

≥2

5

0

0

0

4

≥1

11

1

0

0

0

0

41

7

1

5

7

  1. Bil. BrCa, bilateral breast cancer; BrCa, breast cancer; ER, estrogen receptor; HER2, human epidermal growth factor receptor 2; OvCa, ovarian cancer; PR, progesterone receptor. a8 Bilateral breast cancer cases, together 16 cancers, b5 Breast and ovarian cancer cases, together 10 cancers