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
|