Table 2.
Mitochondrial DNA mutations in breast tumors. Complete mtDNA was sequenced in representative samples (n4), containing POLG mutations T251I (Exonuclease domain) and P587L (Linker domain); ins Gln 43-55 and intronic variants.
| Variant | Mutant percentage (n=4) | Region | Amino Acid Change | Association with Cancer and other diseases |
|---|---|---|---|---|
| A93G | 50 | D-loop | N/A | Colorectal and Gastric tumors |
| T152C | 50 | D-loop | N/A | Ovarian/ Squamous cell carcinoma |
| A263G | 100 | D-loop | N/A | Oral Cancer |
| C309CC | 100 | D-loop | N/A | Multiple tumors |
| C315CC | 100 | D-loop | N/A | Multiple tumors |
| C16169T | 50 | D-loop | N/A | Polymorphism |
| T16172C | 50 | D-loop | N/A | MNGIE/Oral Cancer |
| C16261T | 50 | D-loop | N/A | Oral Cancer |
| T16311C | 50 | D-loop | N/A | Oral Cancer |
| C16320T | 50 | D-loop | N/A | Oral Cancer |
| A750G | 100 | 12S rRNA | N/A | Polymorphism |
| A1438G | 100 | 12S rRNA | N/A | Polymorphism |
| A2706G | 50 | 16S rRNA | N/A | Oral Cancer |
| A4769G | 100 | ND2 | syn | Polymorphism |
| G6755A | 50 | COI | syn | Polymorphism |
| A8860G | 100 | ATPase 6 | T-A | Polymorphism |
| A8869G | 50 | ATPase 6 | M-V | Polymorphism |
| G13759A | 50 | ND5 | A-T | Polymorphism |
| T15214C | 50 | CYT B | syn | Polymorphism |
| A15326G | 100 | CYT B | T-A | Polymorphism |