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Table 2 The spectrum of BRCA1 pathogenic and likely pathogenic variants in breast and ovarian cancer patients

From: Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

Gene

Exon/Intron

Mutation

Amino acid change

ClinVar

Number of patients

BRCA1

Exon 5

c.5212G > A

p.Gly1738Arg

Pathogenic

1

BRCA1

Exon 5

c.5209dupA

p.Arg1737Lysfs*93

Pathogenic

1

BRCA1

Intron 5

c.5194-2A > G

-

Likely pathogenic

1

BRCA1

Exon 7

c.5096G > A

p.Arg1699Gln

Likely pathogenic

1

BRCA1

Exon 8

c.5072C > A

p.Thr1691Lys

Likely pathogenic

4

BRCA1

Intron 7

c.4987-5 T > C

-

Pathogenic

1

BRCA1

Intron 7

c.4986 + 5G > A

-

Likely pathogenic

1

BRCA1

Exon 10

c.4624_4628del

p.Ser1542Alafs*30

Pathogenic

1

BRCA1

Exon 11

c.4484G > A

p.Arg1495Lys

Pathogenic

1

BRCA1

Exon 11

c.4467delA

p.Glu1490Asnfs*15

Pathogenic

2

BRCA1

Exon 12

c.4342delA

p.Ser1448Alafs*8

Pathogenic

1

BRCA1

Exon 12

c.4237delG

p.Glu1413Asnfs*2

Pathogenic

1

BRCA1

Exon 13

c.4161_4162del

p.Gln1388Glufs*2

Pathogenic

1

BRCA1

Exon 14

c.4065_4068del

p.Asn1355Lysfs*10

Pathogenic

2

BRCA1

Exon 14

c.4041_4042del

p.Gly1348Asnfs*7

Pathogenic

1

BRCA1

Exon 14

c.3823dupA

p.Ile1275Asnfs*12

Pathogenic

1

BRCA1

Exon 14

c.3817C > T

p.Gln1273*

Pathogenic

1

BRCA1

Exon 14

c.3756_3759del

p.Ser1253Argfs*10

Pathogenic

5

BRCA1

Exon 14

c.3607C > T

p.Arg1203Ter

Pathogenic

1

BRCA1

Exon 14

c.3333delA

p.Glu1112Asnfs*5

Pathogenic

1

BRCA1

Exon 14

c.2764_2767del

p.Thr922Leufs*77

Pathogenic

1

BRCA1

Exon 14

c.2635G > T

p.Glu879*

Pathogenic

7

BRCA1

Exon 14

c.2253_2254del

p.Met751Ilefs*10

Pathogenic

1

BRCA1

Exon 14

c.1961delA

p.Lys654Serfs*47

Pathogenic

1

BRCA1

Exon 14

c.1960_1961del

p.Lys654Valfs*18

Pathogenic

1

BRCA1

Exon 14

c.1881_1884del

p.Ser628Glufs*3

Pathogenic

1

BRCA1

Exon 14

c.1483G > T

p.Glu495*

Pathogenic

1

BRCA1

Exon 14

c.1193C > A

p.Ser398*

Pathogenic

1

BRCA1

Exon 14

c.981_982del

p.Cys328*

Pathogenic

2

BRCA1

Exon 14

c.968delG

p.Gly323Glufs*18

Pathogenic

1

BRCA1

Exon 14

c.938 T > G

p.Leu313*

Pathogenic

1

BRCA1

Intron 14

c.671-1G > T

-

Likely pathogenic

1

BRCA1

Exon 17

c.520C > T

p.Gln174*

Pathogenic

1

BRCA1

Exon 17

c.470_471del

p.Ser157*

Pathogenic

2

BRCA1

Intron 19

c.212 + 3A > G

-

Pathogenic

1

BRCA1

Exon 20

c.140G > T

p.Cys47Phe

Likely pathogenic

1

BRCA1

Exon 22

c.66dupA

p.Glu23Argfs*18

Pathogenic

2

BRCA1

Exon 22

c.1A > G

p.Met1Val

Pathogenic

1