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Table 3 BRCA1 and/or BRCA2 uv group and IHC tumour characteristics.

From: Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers

 

ID pts

Age at diagnosis

DNA

Mutation effect

Grade

° ER (score)

° PR (score)

§HER2

^ BRCAPRO BRCA1

^ BRCAPRO BRCA2

^ BRCAPRO total

BC, CBC and BBC cases

OC cases

BRCA1 uv

             
 

BR417

30

1186A>G

Q356R

2

+ (3)

- (0)

3+

0.015

0.040

0.055

1 (46)

/

 

BR427

48

4274A>G

L1385L

2

+ (7)

+ (7)

1+

0.000

0.010

0.011

1 (44)

/

 

BR437

50

2351T>G

A744A

1

+ (5)

+ (3)

1+

0.000

0.014

0.015

3 (50, 55, 59)

/

 

BR523

48 BBC

IVS20+60ins12

 

2

+ (6)

+ (7)

1+

0.018

0.245

0.263

3 (50,50, 52)

/

 

BR570

47

5221T>C

L1701P

3

- (0)

+ (3)

3+

0.094

0.169

0.264

2 (49+52 CBC, 56)

/

 

BR647

49

1186A>G

Q356R

3

+ (8)

+ (7)

1+

0.005

0.010

0.015

3 (65, 67, 70)

/

 

BR658

43

1186A>G

Q356R

3

+ (6)

+ (6)

2+

0.001

0.069

0.070

3 (50+63 CBC, 57, 60*)

/

 

BR665

65 BBC

655A>G

Y179C

2

+ (5)

+ (5)

-

0.001

0.004

0.004

3 (60, 80, 80)

/

   

1575T>C

F486L

         
   

1767A>G

N550H

         

BRCA2 uv

             
 

BR376

55

IVS2-7T>A

 

2

+ (6)

+ (3)

1+

0.000

0.008

0.008

2 (45, 90)

/

 

BR390

51 OC+54 BBC

6328C>T

R2034C

2

+ (5)

+ (8)

-

0.130

0.648

0.777

3 (34, 39, 40)

/

 

BR458

44+49 CBC

5972T>C

T1952I

2

+ (7)

+ (5)

-

0.025

0.433

0.459

2 (50 BBC, 70)

/

 

BR486

56

2457T>C/ 9329A>G

H743H/R3034Q

3

+ (5)

+ (8)

-

0.000

0.000

0.000

4 (57, 71, 75, 90)

/

 

BR505

67

6751C>G

Q2175E

1

+ (7)

+ (7)

-

0.018

0.426

0.444

4 (40 BBC, 50 BBC, 53 BBC, 58)

/

 

BR538

62

4236G>A

L1356L

2

+ (7)

+ (7)

-

0.001

0.025

0.026

2 (50 BBC, 56)

/

 

BR587

38+60 CBC

IVS24-113T>G

 

3

- (0)

- (0)

1+

0.922

0.063

0.984

2 (40, 43)

1 (60)

BRCA1/2 uv

             
 

BR514

57

3238G>A

S1040N

1

+ (7)

+ (8)

-

0.001

0.061

0.062

4 (42, 45, 49, 55)

/

   

IVS4+67A>C

1613A>G

E462G

         
 

BR552

70

4158A>G

R1347G

3

+ (5)

+ (3)

3+

0.000

0.012

0.012

3 (40, 47, 65)

/

   

6328C>T

R2034C

         
 

BR567

50

IVS4+67A>C

 

3

+ (6)

+ (7)

-

0.009

0.215

0.225

3 (37 BBC, 50 BBC, 50)

1 (59)

   

2457T>C

H743H

         
 

BR571

31

IVS9-34T>C

 

2

+ (3)

+ (6)

3+

0.001

0.037

0.038

3 (50, 50, 61)

/

   

5972C>T

T1951M

         
 

BR580

43

3238G>A

S1040N

3

+ (7)

+ (5)

1+

0.001

0.030

0.031

2 (46, 68)

/

   

1409A>G

E394A

         
 

BR640

30

855T>G

L246V

3

+ (7)

- (0)

1+

0.117

0.261

0.378

2 (30, 40)

/

   

4296G>A

L1356L

         
  1. BC = breast cancer; CBC = controlateral breast cancer; BBC = bilateral breast cancer; OC = ovarian cancer; / = no cases; M = male. The ages at diagnosis of the first cousins are in boldface type; ° IHC Allred total scores of 3 or more were reported as positive. §HER2 IHC scores: - negative, 1+ weak, 2+ moderate, 3+ strong. ^ Probability of mutation calculated by BRCAPRO software http://www.isds.duke.edu/~gp/brcapro.html; * number of additional tumours in the family and ages of onset in parentheses.
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BMC Cancer

ISSN: 1471-2407

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