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Table 1 BRCA1 and BRCA2 mutational analysis

From: A role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population

Characteristics

Cases

BRCApositive Families

 

No.

%

No.

%

TOTAL CASES*

348

 

35

10

"High risk"

131

 

23

17.5

   BC

106

81

17

16.0

   BC/OC

16

12

5

31.2

   MBC

9

7

1

11.1

   Age at diagnosis <40 y

41

31

12

29.2

"No High risk"

217

 

12

5.5

   BC

204

94

11

5.4

   BC/OC

8

4

1

12.5

   MBC

5

2

0

0.0

2 BC/OC in the family

114

 

4

3.5

≥ 3 BC/OC in the family

145

 

17

11.7

  1. High risk: presence of a breast cancer patient diagnosed before age 50 years and having at least one first- or second-degree relative who is diagnosed with breast cancer before 50 years of age or ovarian cancer at any age). No high risk: presence of a breast cancer patient having at least one first- or second-degree relative who is diagnosed with breast cancer or ovarian cancer at any age. BC, breast cancer; OC, ovarian cancer; MBC, male breast cancer.
  2. * including 112 families already reported in our previous studies