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Table 2 DNA sequencing reveals similar tumor variants in rhesus and human cancers but cannot explain the observed cohort-wide loss of MMR protein expression

From: Epigenetic MLH1 silencing concurs with mismatch repair deficiency in sporadic, naturally occurring colorectal cancer in rhesus macaques

ID

TMB

[mut/Mbp]

Somatic

Germline

APC

AMER1

KRAS

BRAF

TP53

ARID1A

ALK

MLH1

MSH2

MSH6

PMS2

MLH1

MSH2

MSH6

PMS2

CRC_1

40.71

TMB high

 

p.F173L_fs

p.Q61R

  

p.P1328R_fs p.H2020N

         

CRC_2

42.66

TMB high

 

p.R630L

p.G12D

  

p.A282V p.G859E

p.R28S

   

p.E745K

    

CRC_3

50.36

TMB high

    

p.M73W_fs

p.Q423K p.S748N

p.G902R

        

CRC_4

19.71

TMB high

p.A2120T

p.Q978*

p.G12S p.G13D

p.R356Q

   

p.S404Y

       

CRC_5

23.72

TMB high

      

p.G875R

    

p.R516W

   

CRC_6

31.03

TMB high

p.R2759H

  

p.P399L_fs

p.R175H

  

p.R497G_fs

  

p.T680M

    

CRC_7

13.38

TMB high

p.R1450*

 

p.A59T

  

p.A273P_fs

         

CRC_8

15.52

TMB high

p.G721* p.T1556N_fs

 

p.G12D

  

p.G771S p.P1569L_fs

         

CRC_9

41.38

TMB high

 

p.A36V p.K238N p.K260N_fs p.A622P_fs

p.G13D p.R68W

p.P399L_fs

p.M73W_fs p.A119V p.R175H p.R337H

p.F2142S_fs

         

CRC_10

47.47

TMB high

p.L204I p.R2721H

p.F173L_fs

p.G12D p.A146T

p.P399L_fs

p.P142L

p.L2240F p.A2238S

p.Q500R

        

CRC_11

19.74

TMB high

  

p.A146T

            

CRC_12

32.17

TMB high

p.A1296T p.A1755V p.N1792M_fs

p.F173L_fs

p.G12D

  

p.R1278* p.D1851T_fs

         

CRC_13

25.85

TMB high

p.N627L_fs

p.F173L_fs

 

p.R667Q

p.M73W_fs

          

CRC_14

30.98

TMB high

p.Y796C p.R1687Q

   

p.R273*

p.P1569L_fs

         

CRC_15

17.66

TMB high

               

CRC_16

22.98

TMB high

     

p.P1408Q_fs

         
 

Ø 29.71

 

8/16

7/16

9/16

5/16

6/16

10/16

4/16

2/16

0/16

0/16

2/16

1/16

0/16

0/16

0/16

  1. WES of rhesus CRCs and post-processing revealed 304 non-synonymous mutations in the most frequently affected genes of human cancers (most relevant shown here, for more details see Additional file 1: File S1). These variants affect tumor suppressor and oncogenes like APC, AMER1, TP53, KRAS, and ARID1A. 69.4% of these mutations are exactly as reported in human COSMIC data base. Interestingly, potentially pathogenic somatic or germline mutations of MMR proteins were seen in only a minority of cases
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Journal of Translational Medicine

ISSN: 1479-5876

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