Table 1.
Molecular assays and main characteristics of the studies for advanced breast cancer with ESR1 mutations.
| First Author [Year] | Tumor Type (n) | Sample Type | Detection Method | Sequencing Equipment of Kit (Company) | Most Frequent ESR1 | Study Country |
|---|---|---|---|---|---|---|
| NGS based | ||||||
| Bartels et al., (2018), [78] | BC with bone metastases (231) | FFPE | NGS and ddPCR | Ion PGM Hi-Q Kit v2 using 318 v2 Chips and QuantStudio 3D Digital PCR System (Thermo Fisher Scientific, Germany) | D538G | Germany |
| Cancer Genome Atlas, (2012), [16] | Luminal BC (169) | Tissue | NGS and several methods | Illumina (Illumina, USA) | NA | Multi-national |
| Ellis et al., (2012), [17] | Luminal BC (46) | Snap-frozen tissue | NGS | Illumina (Illumina, USA) | NA | USA |
| Jeselsohn et al., (2014), [40] | Metastatic BC (76) | FFPE | NGS | HiSeq2000 (Illumina, USA) | D538G and Y537N | USA and Spain |
| Lefebvre et al., (2016), [29] | Metastatic BC (143) | Fresh frozen tumor biopsy | NGS | Illumina HiSeq2500, HiSeq4000, or NextSeq500 (Illumina, USA) | NA | France |
| Merenbakh-Lamin et al., (2013), [55] | Metastatic BC (13) | FFPE | NGS | Illumina HiSeq2000 (Illumina, USA) | D538G | Israel |
| Nik-Zainal et al., (2016) [83] | BC (560) | FFPE | NGS | Illumina GAIIx, Hiseq 2000 or Hiseq 2500 (Illumina, USA) | NA | Multi-national |
| Niu et al., (2015) [36] | Metastatic BC (222) | FFPE | NGS | Illumina HiSeq2000 platform (Illumina, USA) | Codon Y537 | USA |
| Robinson et al., (2013) [33] | Metastatic BC (11) | Frozen needle biopsy | NGS | Illumina HiSeq2000 platform (Illumina, USA) | NA | USA |
| Toy et al., (2013) [34] | Advanced BC and Metastatic BC (36) | Fresh frozen tissue and FFPE | NGS | Illumina Hiseq 2000 (Illumina, USA) | D538G | USA |
| Toy et al., (2017) [87] | Metastatic BC (265) | FFPE | NGS | Illumina HiSeq 2500 (Illumina, USA) | D538G | USA |
| Yanagawa et al., (2017) [89] | Primary BC (16) and recurrent BC (46) | FFPE and plasma | NGS | Torrent PGM instrument (Thermo Fisher Scientific, USA) | D538G | Japan |
| ddPCR based | ||||||
| Chandarlapaty et al., (2016) [79] | Metastatic BC (541) related to BOLERO-2 clinical trial | Plasma in EDTA | Single ddPCR | QX200 Droplet Digital PCR System (Bio-Rad Laboratories, USA) | D538G | USA |
| Chu et al., (2016) [80] | Metastatic BC (23) | Plasma in Streck BCT DNA tube or EDTA | ddPCR | QX200 Droplet Digital PCR System (Bio-Rad Laboratories, USA) | D538G | USA |
| Clatot et al., (2016) [81] | BC with progression (144) | Plasma in heparinized tube | Single ddPCR | QX200 Droplet Digital PCR System (Bio-Rad Laboratories, USA) | D538G | France |
| Gyanchandani et al., (2017) [90] | Relapsed or metastatic BC (16) | Plasma in Streck Cell-free DNA blood tubes | ddPCR | QX100 Droplet Digital PCR System (Bio-Rad Laboratories, USA) | D538G | USA |
| Fribbens et al., (2016) [82] | BC with relapse or progression (161) related to SoFEA and PALOMA-3 clinical trials | Plasma in EDTA | Multiplex and uniplex ddPCR | QX200 Droplet Digital PCR System (Bio-Rad Laboratories, USA) | D538G | USA |
| Schiavon et al., (2015] [84] | Advanced BC (171) | Plasma in EDTA or Streck Cell-Free DNA BCT tube, and FFPE | Multiplex ddPCR | QX200 Droplet Digital PCR System (Bio-Rad, USA), Ion AmpliSeq Breast Cancer Panel (Thermo Fisher Scientific, USA), and PI chip using the Ion PI OT2 200 Kit (Thermo Fisher Scientific, USA) | D538G | United Kingdom |
| Sefrioui et al., (2015) [35] | Metastatic BC (7) | Frozen pleural biopsy, FFPE for primary tumor sample, and plasma in heparinized tube | ddPCR | QuantStudio 3D Digital PCR System (Thermo Fisher Scientific, USA) | NA | France |
| Spoerke et al. (2016) [85] | Metastatic BC (153) related to FERGI clinical trial | Plasma and FFPE | ddPCR | QX200 Droplet Digital PCR System (Bio-Rad Laboratories, USA) | D538G | USA |
| Takeshita et al., (2017) [86] | Advanced BC (17) and Metastatic BC (69) | Plasma in EDTA | Single ddPCR | QX200 Droplet Digital PCR System (Bio-Rad Laboratories, USA) | Y537N | Japan |
| Wang et al., (2016) [88] | Primary or metastatic BC (29) | Frozen tissue and plasma in Streck tubes | ddPCR | QX100 Droplet Digital PCR System (Bio-Rad Laboratories, USA) | D538G | USA |
BC, breast cancer; FFPE, formalin-fixed paraffin-embedded; NGS, next-generation sequencing; ddPCR, droplet digital polymerase chain reaction.