ID
|
Material
|
Sample group
|
Known pathogenic variant in blood
|
Multiplex PCR-based NGS
|
Targeted capture-based NGS
|
---|
Pathogenic variant detected?a
|
False positive path. Variants
|
Pathogenic variant detected?a
|
False positive path. Variants
|
---|
P01
|
FFPE tissue
|
Routine diagnostic
|
BRCA2:p.Ala1327fs
|
yes
|
3
|
yes
|
0
|
P02
|
BRCA2:p.Asn1747fs
|
yes
|
3
|
yes
|
0
|
P03
|
BRCA1:p.Gln1756fs
|
yes
|
3
|
yes
|
0
|
P04
|
BRCA1:p.Leu786fs
|
yes
|
3
|
yes
|
0
|
P05
|
BRCA1:p.Cys61Gly
|
(no)
|
3
|
yes
|
0
|
P06
|
BRCA2:p.Val1283fs
|
yes
|
3
|
yes
|
0
|
P07
|
BRCA2:p.Asn433fs
|
yes
|
3
|
yes
|
0
|
P08
|
BRCA2:p.Asn1747fs
|
yes
|
3
|
yes
|
0
|
P09
|
–
|
nob
|
3
|
nob
|
0
|
P10
|
BRCA1:NM_007294.3:c.4675 + 1G > A
|
(no)
|
2
|
yes
|
0
|
P11
|
BRCA1:p.Glu23fs
|
yes
|
3
|
yes
|
0
|
P12
|
BRCA2:p.Asn2135fs
|
yes
|
3
|
yes
|
0
|
P13
|
BRCA1:NM_007294.3:c.4675 + 1G > A
|
yes
|
3
|
yes
|
0
|
- aSee Additional file 3: Table S2 for detailed information on type of pathogenic variant
- bno pathogenic germline BRCA1/2 variant detected in blood from the same patient