Table 2 Mutations found in known cancer-related genes by cfDNA sequencing.

From: Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing

Patient

Status

Anatom. stage

TB

CA 15-3

APC

ATM

BRCA1

BRCA2

EGFR

ERBB2

JAK2

KMT2C

MAGI3

MAP3K1

NF1

PIK3CA

PIK3R1

RET

TP53

Other

BC050

N

II

L

NA

     

R814H (0.007)

        

R273C (0.012)

 

BC083

N

II

L

NA

                

BC017

N

III

M

N

               

AKT1 S122L (0.006)

AKT1 E151Q (0.006)

BC002

N

III

M

H

            

D643G (0.007)

Q44* (0.005)

 

MET A1239V (0.006)

DOT1L G1014R (0.011)

BC003

N

III

M

H

  

L440* (0.011)

        

H1047R (0.57)

  

I195F (0.46)

 

BC058

M

IV

L

N

                

NTT00018

M

IV

L

N

                

BC033

M

IV

L

N

              

S241C (0.006) L194X (0.003)

 

BC042

M

IV

L

N

              

C238G (0.034)

AURKA S53Y (0.016)

AURKA Q34K (0.018)

AURKA Q74* (0.019)

AURKA Q29K (0.02)

AURKA S123* (0.035)

BC116

M

IV

L

N

              

S106R (0.047)

ERBB3 V104L (0.033)

BC095

M

IV

L

N

  

R1856Q (0.011)

         

D68N (0.250)

  

JAK1 P861Tfs (0.005)

FGFR1 D166del (0.013)

TSC2 S1764N (0.013)

BC062

M

IV

L

H

                

BC072

M

IV

L

H

     

L755S (0.023)

 

S3585* (0.061)

S218C (0.04)

  

447-455del (0.045)

  

E286G (0.097)

KRAS A59T (0.018)

GNAS P459R (0.397)

BC014

M

IV

M

N

                

BC026

M

IV

M

N

    

T785N (0.008)

         

Y220C (0.016)

 

BC031

M

IV

M

N

             

D58N (0.006)

  

BC046

M

IV

M

N

          

D2077A (0.005)

     

BC056

M

IV

M

N

              

R209X (0.005)

 

BC098

M

IV

M

N

E129Q (0.016)

  

A2951T (0.024)

         

Q681E (0.022)

  

BC013

M

IV

M

H

               

ARID1A A615fs (0.003)

BC028

M

IV

M

H

  

Y856H (0.005)

      

P403Tfs (0.007)

      

BC054

M

IV

M

H

    

R680Q (0.007)

          

GATA3 S405Rfs (0.065)

BC100

M

IV

M

H

          

G772E (0.061)

N773K (0.061)

   

E286K (0.33)

SMO R763* (0.005)

SB00005

M

IV

M

H

           

H1047R (0.035)

    

BC021

M

IV

H

N

               

FBXW7 G477S (0.205)

BC040

M

IV

H

N

R1676T (0.016)

    

G727A (0.31)

 

D2297N (0.007)

Y1041H (0.24)

  

I112N (0.34)

  

Q331* (0.009) Q192* (0.49)

SMAD4 R135* (0.012)

CDH1 175-splice (0.426)

BC068

M

IV

H

H

               

GATA3 P409Ffs (0.217)

BC089

M

IV

H

H

 

E609D (0.045)

    

S280* (0.006)

    

H1047L (0.124)

  

R282W (0.137) H214P (0.005)

MPL R229T (0.008)

ATR R2337T (0.013)

MPL E336Q (0.06)

BC092

M

IV

H

H

   

K3326* (0.008)

  

I724T (0.014)

  

M312L (0.014)

     

ABL1 G725S (0.017)

BC094

M

IV

H

H

          

R416* (0.257)

E1276* (0.179)

    

ALK R551Q (0.006)

KDR S1021L (0.017)

JAK1 E897K (0.02)

TSC1 Q55* (0.275)

TSC1 H189R (0.281)

BC102

M

IV

H

H

 

I2914V (0.008)

M1673I (0.011)

 

R574W (0.008)

         

L111Ffs (0.65)

FLT3 D324N (0.005)

BC114

M

IV

H

H

              

R284Q (0.32)

 

BC117

M

IV

H

H

      

R588X (0.124)

    

V344G (0.027)

E542K (0.022)

  

R213* (0.41)

NOTCH1 G2535D (0.256)

CYK00017

M

IV

H

H

              

R248W (0.13)

 

GJ00025

M

IV

H

H

 

E632Q (0.17)

         

C420R (0.53)

  

L194R (0.37)

S241Y (0.75)

SMO L426V (0.195)

  1. Variants from the plasma of 35 BC patients in recurrent genes are reported here. VAFs are in parentheses. Patient status refers to neoadjuvant (N) or metastatic cases (M). Tumour Burden (TB) has levels (L)ow, (M)edium and (H)igh and CA15-3 has levels (N)ormal and (H)igh or not available (NA). Patients are sorted by anatomical stage, tumour burden and CA15-3 levels.
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