Table 2 BRCA mutations detected in blood, FFPE tumor samples and cytological samples of ovarian cancer patients

1

BRCA1

c.844_850dupTCATTAC p.(Gln284Leufs*5)

YES

YES

YES

YES

AS

germline

2

BRCA1

c.116G > A p.(Cys39Tyr)

YES

YES

YES

YES

AS

germline

3

BRCA1

del ex 4–9 c.(134 + 1_135–1)_(670 + 1_671–1)del p.

YES

YES

YES

YES

AS

germline

4

BRCA1

c.1543G > T p.(Glu515*)

NO

YES

YES

YES

ELN

somatic

5

BRCA1

c.3018_3021delTTCA p.(His1006Glnfs*17)

YES

YES

YES

YES

PE

germline

6

BRCA1

c.1687C > T p.(Gln563*)

YES

YES

YES

YES

AS

germline

7

BRCA1

c.850C > T p.(Gln284*)

YES

YES

YES

YES

AS

germline

8

BRCA1

del ex4–9 c.(134 + 1_135–1)_(670 + 1_671–1)del p.?

YES

YES

YES

YES

ELN

germline

9

BRCA2

c.4139_4140dupTT p.(Lys1381Leufs*8)

YES

YES

YES

YES

AS

germline

10

BRCA1

c.843_846delCTCA p.(Ser282Tyrfs*15)

YES

YES

YES

YES

ELN

germline

11

BRCA1

c.843_846delCTCA p.(Ser282Tyrfs*15)

YES

YES

YES

YES

ELN

germline

12

BRCA2

del ex22–27 c.(8754 + 1_8755–1)_(*1_?)del p.?

NO

YES

YES

YES

ELN

somatic

13

BRCA1

c.843_846delCTCA p.(Ser282Tyrfs*15)

YES

YES

YES

YES

PE

germline

14

BRCA1

c.1687C > T p.(Gln563*)

YES

YES

YES

YES

AS

germline

15

BRCA1

c.3436_3439delTGTT p.(Cys1146Leufs*8)

YES

YES

YES

YES

AS

germline

16

BRCA1

c.844_850dupTCATTAC p.(Gln284Leufs*5)

YES

YES

YES

YES

AS

germline

17

BRCA1

c.4065_4068delTCAA p.(Asn1355Lysfs*10)

YES

YES

YES

YES

AS

germline