Skip to main content
. 2011 Nov;30(11):899–906. doi: 10.1089/dna.2010.1186

Table 4.

Summary of Mitochondrial DNA Mutations in Colorectal Cancer Samples

Case number Gender Age Site Grade Mutation position Type Gene/region Amino acid change Notes
1 F 13 Rectum II 574 A to C D-loop 1    
          576 CCCC insertion     Germline mutation
          584–585 TA to GC      
          587 C to T      
          591 C to A      
          593 T to C     MITOMAP (Mimaki et al., 2009; Gonzalez et al., 2007)
          596 T to C      
          601–602 GC to AA      
          605–607 TAC to AAA      
          612 N insertion      
          616 T to G      
          618 T del      
          622 G to A      
          624 C to A      
          628 C to G      
2 M 27 Rectum II 489 T to C D-loop 1   MITOMAP (Mimaki et al., 2009)
          589 T deletion      
          12403 C to T ND5 L to F MITOMAP (Gonzalez et al., 2007; Mimaki et al., 2009)
14 F 41 Sigmoid II 6618 C insertion CO1 FS  
          6724 T deletion   FS  
16 F 43 Ascending II 3594 C to T ND1 V to V MITOMAP (Mimaki et al., 2009)
25 M 50 Rectum II 3594 C to T ND1 V to V MITOMAP (Mimaki et al., 2009)
29 F 52 Ascending/poly II 3483 A insertion ND1 FS  
33 M 58 Descending III 361 A to C D-loop 2   MITOMAP (Mimaki et al., 2009; Jazin et al., 1996)
          366 G to A      
          372 T to A      
          376 A to C      
          379 A to G     MITOMAP (Mimaki et al., 2009; Feder et al., 2008)
          383 T to A      
          388–389 AG to GA      
          392 A del      
          404 C to T      
          411 C to G      
          414 T to G     MITOMAP (Birket et al., 2009; Reeve et al., 2008)
35 M 60 Rectum I 3614 C insertion ND1 FS  
36 F 62 Rectum II 392 A to C D-loop 2    

MITMAP: a polymorphism reported in MITMAP: A Human Mitochondrial Genome Database. 2009 (MITOMAP, 2009).