Table 1.
Study characteristics and POLE sequencing methodology
| Study | EC cohort size | Proportion POLE-mutant | Country | Sequencing method | Location of exonuclease mutations |
|---|---|---|---|---|---|
| The Cancer Genome Atlas Research Network (2013) [8] | 248 | 17 | USA | Exome sequencing | Hotspots: Pro286Arg and Val411Leu |
| Auguste et al. (2018) [9] | 102 | 9 | Canada and Europe | Sanger sequencing | Exons 9 and 13 |
| Talhouk et al. (2015) [10] | 143 | 12 | Canada | Fluidigm-MiSeq and sanger sequencing | Exons 9–14 |
| Stelloo et al. (2015) [11] | 116 | 14 | Europe and Australia | Sanger sequencing | Exons 9 and 13 |
| Eggink et al. (2017) [12] | 116 | 15 | Europe and Australia | Sanger sequencing | Exons 9, 13 and 14 |
| Wortman et al. (2018) [25] | 344 | 16 | Netherlands | Sequencing | Not reported |
| Kommoss et al. (2018) [26] | 452 | 42 | Germany | Sequencing | Exons 9–14 |
| Bosse et al. (2018) [13] | 376 | 48 | USA, Canada, and Europe | Sanger or next-generation approaches | Hotspots in the exonuclease domain (exons 9–14) |
| Billingsley et al. (2015) [14] | 535 | 30 | USA | Sanger sequencing | Residues 268–471 |
| Le Gallo et al. (2017) [15] | 63 | 0 | USA and Europe | Sanger sequencing | Not reported |
| Karnezis et al. (2017) [27] | 460 | 42 | Canada | Sequencing | Not reported |
| Talhouk et al. (2017) [16] | 319 | 30 | Canada | Sanger sequencing | Exons 9–14 |
| Rosa-Rosa et al. (2016) [17] | 18 | 2 | USA and Europe | Sanger sequencing | Exons 9 and 13 |
| Wortman et al. (2018) [25] | 416 | 16 | Netherlands | Sequencing | Not reported |
| Espinosa et al. (2017) [28] | 21 | 9 | Spain | Sequencing | Exons 9 to 14 |
| Stelloo et al. (2015) [11] | 116 | 14 | Europe | Sanger sequencing | Exons 9 and 13 |
| Hoang et al. (2015) [18] | 14 | 0 | Canada | Sanger sequencing | Exons 9–14 |
| DeLair et al. (2017) [29] | 30 | 2 | USA | Sequencing | Exons 9–14 |
| Abdulfatah et al. (2019) [19] | 60 | 2 | USA | Sanger sequencing | Exons 9 and 13 |
| Wong et al. (2016) [24] | 47 | 14 | Singapore | Next generation sequencing | Exons 9–14 |
| Stelloo et al. (2016) [20] | 834 | 49 | Netherlands | Sanger sequencing | Exons 9 and 13 |
| Imboden et al. (2019) [21] | 599 | 38 | Sweden | Sanger sequencing | Exons 9–14 |
| Church et al. (2015) [7] | 788 | 48 | Europe | Sanger sequencing | Exons 9 and 13 |
| Billingsley et al. (2016) [22] | 72 | 7 | USA | Sanger sequencing | Residues 268–471 |
| Talhouk et al. (2016) [23] | 57 | 10 | USA and Canada | Ultra-deep MiSeq or sanger sequencing | Exons 9–14 |
POLE, DNA polymerase epsilon; EC, endometrial carcinoma.