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Table 3 Pathogenic/like pathogenic variants in 522 Patients with BRCA mutation-related cancers

From: Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area

Gene

Exon

cDNA

Amino Acid

Mutation Type

# of Carriers

ACMG Classification

Cancer Type

Gender

Age

Onset of Disease

Place of Birth (Genetic Cluster)

BRCA1

7

c.367dup

p.Ser123PhefsTer19

frameshift duplication

1

likely pathogenic

PDAC

Female

52

51

Zhejiang (East)

 

11

c.2197_2201del

p.Glu733ThrfsTer5

frameshift deletion

1

pathogenic

TNBC

Female

32

31

Shandong (North)

 

11

c.3294del

p.Pro1099Leufs*10

frameshift deletion

1

pathogenic

TNBC

Female

24

22

Anhui (East)

 

11

c.3329dup

p.Gln1111Alafs*4

frameshift duplication

1

pathogenic

TNBC

Female

38

36

Jiangsu (East)

 

18

c.5138T > C

p.Val1713Ala

nonsynonymous substitution

1

likely pathogenic

TNBC

Female

57

39

Shanghai (East)

 

-

c.5194-1del

-

intronic splicing

1

likely pathogenic

TNBC

Female

35

33

Jiangxi (South)

 

22

c.5357T > C

p.Leu1786Pro

nonsynonymous substitution

1

likely pathogenic

TNBC

Female

59

58

Shanghai (East)

 

24

c.5470_5477del

p.Ile1824AspfsTer3

frameshift deletion

3

pathogenic

TNBC

Female

42

40

Shandong (North)

       

TNBC

Female

38

35

Hebei (North)

       

TNBC

Female

34

33

Hebei (North)

BRCA2

5

c.470_474del

p.Lys157Sfs*24

frameshift deletion

1

pathogenic

TNBC

Female

30

28

Shanghai (East)

 

11

c.3847_3848del

p.Val1283Lysfs*2

frameshift deletion

2

pathogenic

PDAC

Male

47

45

Anhui (East)

       

PDAC

Male

71

70

Shanghai (East)

 

11

c.4630_4631dup

p.Asn1544LysfsTer25

frameshift duplication

1

likely pathogenic

mCRPC

Male

67

63

Jiangsu (East)

 

11

c.5073dup

p.Trp1692MetfsTer3

frameshift duplication

1

pathogenic

HGOC

Female

54

47

Shanghai (East)

 

11

c.5682 C > G

p.Tyr1894Ter

nonsense mutation

1

pathogenic

TNBC

Female

39

26

Shanghai (East)

 

11

c.5980 C > T

p.Gln1994Ter

nonsense mutation

1

pathogenic

mCRPC

Male

74

73

Shanghai (East)

 

11

c.6155 C > G

p.Ser2052Ter

nonsense mutation

1

pathogenic

TNBC

Female

46

45

Shanghai (East)

 

11

c.6405_6409del

p.Asn2135LysfsTer3

frameshift deletion

1

pathogenic

mCRPC

Male

69

68

Shanghai (East)

 

15

c.7480 C > T

p.Arg2494*

nonsense mutation

1

pathogenic

PDAC

Male

64

61

Shandong (North)

 

22

c.8941_8942del

p.Glu2981Lysfs*36

frameshift deletion

1

pathogenic

TNBC

Female

29

27

Hubei (Central)

 

23

c.9117G > A

p.Pro3039=

synonymous substitution

1

pathogenic

TNBC

Female

35

34

Inner Mongolia (North)

 

24

c.9122 C > G

p.Ser3041Ter

nonsense mutation

2

likely pathogenic

TNBC

Female

38

35

Henan (North)

       

TNBC

Female

71

71

Henan (North)

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BMC Cancer

ISSN: 1471-2407

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