Somatic mtDNA mutations in patients with liver cancer
| Case | Gene | Difference between DNA in tumours and in normal tissue | Cambridge sequence | Pattern | Function location | Reported in Mitomap and other tumours |
|---|---|---|---|---|---|---|
| Ht, heteroplasmy | ||||||
| Hm, homoplasmy. | ||||||
| Twenty-four mutations in total, four homoplasmy to heteroplasmy, three heteroplasmy to homoplasmy, 16 homoplasmy to homoplasmy, and one heteroplasmy to heteroplasmy. | ||||||
| Back changes are in bold. | ||||||
| HE01 | COI | T6293C (CCT>CCC, P130P) | T | Hm to Ht | COI | Novel |
| HE02 | Dloop | A16180G | A | Hm to Hm | 7S | |
| HE03 | Dloop | 433>438 ins C (C6>C6/7) | C6 | Hm to Ht | mtTF1 binding site | Novel |
| HE09 | Dloop | 303>309 ins C (C7>C7/8) | C7 | Hm to Ht | mtTF1 binding site | Breast, head and neck, colon, ovarian cancer, lung, gastric, and thyroid cancers |
| HE11 | Dloop | 303>315 del C (C13>C12) | C7TC5 | Hm to Hm | mtTF1 binding site | Breast, head and neck, colon, ovarian cancer, lung, gastric, and thyroid cancers |
| HE12 | Dloop | C194T | C | Hm to Hm | H to strand origin | |
| HE12 | Dloop | T195C | T | Hm to Hm | H to strand origin | Breast cancer and glioblastomas |
| HE12 | Dloop | C199T | T | Ht to Hm | H to strand origin | Ovarian cancer |
| HE12 | Dloop | G263A | A | Hm to Hm | H to strand origin | |
| HE12 | Dloop | 303>309 del C (C8/7>C7) | C7 | Ht to Hm | mtTF1 binding site | Breast, head and neck, colon, ovarian cancer, lung, gastric, and thyroid cancers |
| HE16 | Dloop | 303>309 del C (C8/9>C8) | C7 | Ht to Ht | mtTF1 binding site | Breast, head and neck, colon, ovarian cancer, lung, gastric, and thyroid cancers |
| HE18 | Dloop | 433>438 ins C (C6>C7) | C6 | Hm to Hm | mtTF1 binding site | Novel |
| HE18 | Dloop | A556G | A | Hm to Hm | Major H to strand promoter | Novel |
| HE19 | Dloop | A189G | A | Hm to Hm | H to strand origin | Breast cancer |
| HE19 | Dloop | C194T | C | Hm to Hm | H to strand origin | |
| HE19 | Dloop | T195C | T | Hm to Hm | H to strand origin | Breast cancer and glioblastomas |
| HE19 | Dloop | T199C | T | Hm to Hm | H to strand origin | Ovarian cancer |
| HE19 | Dloop | T204C | T | Ht to Hm | H to strand origin | Breast cancer and glioblastomas |
| HE19 | Dloop | G207A | G | Hm to Hm | H to strand origin | Breast and thyroid cancers |
| HE19 | Dloop | 433>438 del C (C7>C6) | C6 | Hm to Hm | mtTF1 binding site | Novel |
| HE19 | Dloop | T456C | C | Hm to Hm | Thyroid cancer | |
| HE19 | Dloop | C489T | T | Hm to Hm | Ovarian cancer | |
| HE19 | Dloop | 514>523 ins (CA)3 ((CA)4>(CA)7) | (CA)5 | Hm to Hm | Ovarian cancer, thyroid, head and neck, and gastric cancers | |
| HE20 | Dloop | 303->309 ins C (C8−>C8/9) | C7 | Hm to Ht | mtTF1 binding site | Breast, head and neck, colon, ovarian cancer, lung, gastric, and thyroid cancers |