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Table 1 Somatic mutations identified by OncoCarta and ER, PgR and HER family of receptors assessment

From: HER3 and downstream pathways are involved in colonization of brain metastases from breast cancer

Matched breast primary-brain metastasis pairs

Case ID#

Site

ER - PgR- HER 1-2-3-4

EGFR

NRAS

PIK3CA

    
   

Mutation

MAP

Mutation

MAP

Mutation

MAP

    

1

brain

ER-, PgR-, HER1-, HER2+, HER3-, HER4-

          
 

breast

ER-, PgR-, HER1-, HER2+, HER3-, HER4-

          

2

brain

ER-, PgR-, HER1-, HER2-, HER3+, HER4-

  

Q61RO, H, I, S

39.50%

      
 

breast

ER-, PgR-, HER1-, HER2-, HER3+, HER4-

  

Q61RO, H, I, S

38.30%

      

4

brain

ER-, PgR+, HER1+, HER2-, HER3-, HER4-

          
 

breast

ER-, PgR+, HER1+, HER2-, HER3-, HER4-

          

6

brain

ER-, PgR+, HER1+, HER2-, HER3-, HER4-

          
 

breast

ER-, PgR+, HER1+, HER2-, HER3-, HER4-

          

7

brain

ER-, PgR-, HER1+, HER2-, HER3-, HER4-

  

Q61RI, S

34.4%

      
 

breast

ER-, PgR-, HER1+, HER2-, HER3-, HER4-

  

Q61RI, S

34.1%

      

8

brain

ER-, PgR-, HER1-, HER2+, HER3+, HER4-

          
 

breast

ER-, PgR-, HER1-, HER2+, HER3-, HER4-

          

9

brain

ER-, PgR-, HER1-, HER2+, HER3-, HER4-

    

H1047RS

79.50%

    
 

breast

ER-, PgR-, HER1-, HER2+, HER3-, HER4-

    

H1047RS

79.50%

    

10

brain

ER-, PgR-, HER1+, HER2-, HER3+, HER4-

    

E545KH, NVP

23.40%

    
 

breast

ER-, PgR-, HER1+, HER2-, HER3-, HER4-

    

E545KH, NVP

18.20%

    

11

brain

ER-, PgR-, HER1-, HER2+, HER3-, HER4+

          
 

breast

ER-, PgR-, HER1-, HER2+, HER3-, HER4+

          

12

brain

ER-, PgR+, HER1-, HER2-, HER3+, HER4-

          
 

breast

ER-, PgR+, HER1-, HER2-, HER3+, HER4-

          

13

brain

ER-, PgR-, HER1+, HER2-, HER3-, HER4-

          
 

breast

ER-, PgR-, HER1+, HER2-, HER3-, HER4-

N771_P772>SVDNR

12.10%

        

14

brain

ER-, PgR-, HER1+, HER2-, HER3-, HER4-

          
 

breast

ER-, PgR-, HER1+, HER2-, HER3-, HER4-

          

Unmatched brain metastases from primary lung, colon, melanoma and kidney tumours

Case ID#

Site

ER - PgR- HER 1-2-3-4

EGFR

HRAS

KRAS

NRAS

PIK3CA

   

Mutation

MAP

Mutation

MAP

Mutation

MAP

Mutation

MAP

Mutation

MAP

D2

melanoma

n.a.

        

E545KH, I, Y

30.80%

D3

colon

n.a.

    

G12CS

38.90%

    

D4

lung

n.a.

E746_A750delA

21.00%

        

D5

lung

n.a.

          

D6

lung

n.a.

E746_A750delA, NVI

14.40%

G13SI

17.30%

  

G12CI;S

35.70%

  

D7

lung

n.a.

      

G12CO;I

9.70%

  

D8

lung

n.a.

    

G12CS

39.90%

    

D9

lung

n.a.

        

E545KH

13.30%

D10

kidney

n.a.

E746_A750delA, I

9.10%

    

G12CI, S

35.20%

  
  1. A, validated by immunohistochemistry using a mutation-specific antibody; ER, estrogen receptor; H, validated by High Resolution Melt analysis; I, validated by iPLEX; ID, case number identification; MAP, Mutant Allele Proportion estimated by OncoCarta; NVI, not validated by iPLEX; NVP, no further validation possible because no DNA remained; O, validated by repeat OncoCarta; PgR, progesterone receptor; S, validated by sequencing; Y, sequencing did not work for this sample; n.a., not accessed.