Table 2 Likelihood ratio in favor of causality for selected pathogenic mutations

BRCA1

c.81-6T>A

IVS2-6T>A

p.Cys27fsX1

1

6.4287(5⁺; 3₊; 1^-; 3_-)

6.4287

BRCA1

c.213-12A>G

IVS5-12A>G

p.Arg71fsX20

1

10.2701(1⁺; 3₊; 6_-)

10.2701

BRCA1

c.1292dup

1411insT

p.Leu431PhefsX5

2

1.7312(2⁺; 1₊; 1_-)

3.3715

1.9475(1⁺; 2₊; 1_-)

BRCA1

c.2193_2197del

2312delAGAAG

p.Glu733ThrfsX5

1

4.7089(2⁺; 1₊; 4_-)

4.7089

BRCA1

c.5095C>T

5214C>T

p.Arg1699Trp

3

22.8602(3⁺; 6₊; 2^-; 4_-)

402.164

2.2720(1⁺; 1₊; 1_-)

7.7431(2⁺; 1₊)

BRCA2

c.2806_2809del

3034delAAAC

p.Ala938ProfsX21

1

1.9901(2⁺; 1₊; 1_-)

1.9901

BRCA2

c.3269del

3497delT

p.Met1090SerfsX14

1⁶

87.46(5⁺)

87.46

BRCA2

c.3599_3560del

3827delTG

p.Cys1200X

1

1.1876(1⁺; 3₊; 1_-)

1.1876

BRCA2

c.8067T>A

8295T>A

p.Cys2689X

1

12.2424(3⁺; 1₊; 4_-)

12.2424

BRCA2

c.8773C>T

9001C>T

p.Gln2925X

1

1.8827(1⁺; 3₊)

1.8827