Table 2 BRCA1/2 non-founder pathogenic variants

Total

44

BRCA1 NM_007294.3

38

 c.1961delA

p.Lys654fs

FS

PTC

2

 c.1961dupA ^a,b

p.Tyr655fs

FS

PTC

1

 c.2241delC ^a,b

p.Asp749fs

FS

PTC

1

 c.2481delA ^a

Gly828fs

FS

PTC

1

 c.3700_3704delGTAAA ^a

p.Val1234fs

FS

PTC

1

 c.4065_4068delTCAA ^a,b

p.Asn1355fs

FS

PTC

1

 c.4675G > A

p.Glu1559Lys

MS

MS

5

 c.4689C > G ^a

p.Tyr1563*

NS

PTC

1

 c.5095C > T ^a

p.Arg1699Trp

MS

MS

1

 c.5117G > A

p.Gly1706Glu

MS

MS

18

 c.5256_5278-2757del ^a,b

–

LGR

PTC

1

 c.5503C > T ^a

p.Arg1835*

NS

PTC

2

 c.843_846delCTCA

p.Ser282fs

FS

PTC

1

 rsa17q21.31(BRCA1 5’UTR-3’UTR)×1, exon 1-23del ^a,b

–

LGR

–

1

 c.-232-?_134 +?del

exon 1-3del ^a

–

LGR

–

1

BRCA2 NM_000059.3

6

 c.1310_1313delAAGA ^a,b

p.Lys437fs

FS

PTC

1

 c.1813dupA. ^a,b

p.Ile605Asnfs

FS

PTC

1

 c.5946delT ^a

p.Ser1982fs

FS

PTC

1

 c.8572C > T ^a

p.Gln2858*

NS

PTC

1

 c.9097delA ^a,b

p.Thr3033Leufs

FS

PTC

1

 c.9381G > A ^a,b

p.Trp3127*

NS

PTC

1