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Table 4 Clinical characteristics of 37 cases or controls with germline variants

From: Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR)

   

Variant Detected

Patient ID

Age

Familial*

SMAD3

SMAD4

P1

53

OFBCR

IVS8+23A > C

None

P2

57

 

None

IVS12+41 G > A

P3

39

OFBCR

None

IVS10+109 A > G

P4

45

OFBCR/FDR

IVS9+132 A > T

None

P5

44

 

None

IVS11+118 A > G

P6

51

OFBCR

None

IVS12-33 T > A

P7

47

 

None

IVS12 +132 delA

P8

N/A

OFBCR/FDR

IVS8+23A > C

None

P9

N/A

OFBCR

None

c.1350G > A/p.Gln450Gln

C1

44

 

None

IVS10+44 T > C, IVS11+106del7N

C2

44

 

None

IVS11+68 delGAA

C3

42

 

IVS8+23A > C

None

C4

37

 

None

IVS10+109 A > G

C5

49

 

None

IVS12 +132 delA

C6

34

 

IVS8-211 C > T

None

C7

43

 

None

IVS12-52 A > T

C8

43

OFBCR/FDR

IVS8+23A > C

None

C9

54

 

IVS8+23A > C

None

C10

45

 

IVS6-132C > T

None

C11

50

 

IVS7+69G > C

None

C12

52

 

None

c.1214T > C/p.Phe362Phe **

C13

47

 

None

IVS9-121 A > C

C14

50

 

IVS8+161C > T

IVS10+109 A > G

C15

31

OFBCR/FDR

none

IVS10+109 A > G

C16

35

 

IVS8+23A > C

None

C17

48

 

IVS8+23A > C

None

C18

46

 

IVS8+48T > G

None

C19

43

 

IVS7+69G > C, IVS8-55 A > G

None

C20

46

 

None

IVS13+53 A > G

C21

45

 

IVS8-170C > T

None

C22

67

 

IVS8+48T > G

None

C23

49

 

None

IVS10-121 A > C

C24

37

 

None

c.1701A > G/p.Ile525Val

C25

52

 

IVS7+69G > C, IVS8-55 A > G

None

C26

66

 

IVS7+69G > C

None

C27

60

 

None

IVS12 +132 delA

C28

62

 

None

IVS12 +132 delA

  1. Note: P represents a patient and C represents control
  2. * The familial categorization is based on the OFBCR (Ontario Familial Breast Cancer Registry) and/or FDR (First Degree Relative) which indicates the strength of familial association based on clinical history
  3. ** Found also in a case but mRNA was unavailable from the Breast Cancer Family Registry repository