Table 2.
detection methods of included studies
| Reference (year) | Region | Time Span | Gene | Methods | Generations of the detection method |
|---|---|---|---|---|---|
| Ford et al. (1994) [19] | North America and Western Europe | _ | BRCA1-mutation | Typing of markers | First generation |
| Chen-Shtoyerman et al. (2001) [25] | Ashkenazi Jewish | _ | BRCA1/2 germline mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2) | PCR and restriction fragment length polymorphism | First generation |
| Thompson et al. (2002) [32] | Europe and North America | 2002 | BRCA1 mutation:185delAG and 5382insC | Mutation screening | First generation |
| Niell et al. (2004) [30] | Northern Israel | March 31,1998 to December 31, 2002 | BRCA1 187delAG; BRCA1 5385insC; BRCA2 6174delT | PCR | First generation |
| Kirchhoff et al. (2004) [28] | Ashkenazi Jewish | March 31, 1994 to February 4, 2002 | BRCA1 and BRCA2 | PCR, IHC | First generation |
| Kadouri et al. (2007) [27] | Ashkenazi Jewish | 1995 to 2003 | BRCA1: 185delAG and 5382insC; BRCA2: 6174delT | Statistic analysis | First generation |
| Suchy et al. (2010) [31] | 9 centers situated throughout Poland | 1998 to 2008 | BRCA1 founder mutations (C61G, 4153delA and 5382insC) | PCR | First generation |
| Phelan et al. (2014) [16] | 50 centers in five countries (Canada, United States, Poland, France and Norway) | 1992 to 2010 | BRCA1 and BRCA2 mutation | Direct Sanger sequencing | First generation |
| Mersch et al. (2015) [29] | Clinical Cancer Genetics clinics at the UT MD Anderson Cancer Center (MDACC) | 1997 to 2013 | BRCA1 or BRCA2 deleterious mutation | Statistic analysis | First generation |
| Dobbins et al. (2016) [26] | UK | _ | 114 cancer susceptibility genes | High-coverage exome sequencing: Illumina HumanExome-12v1_A Beadchip arrays | Second generation |
| Fujita et al. (2020) [20] | Japan | 2003 to 2018 | 27 cancer susceptibility genes | Multiplex PCR | First generation |
| Akcay et al. (2020) [24] | Turkish | November 2016 to December 2019 | 25 cancer susceptibility genes | next-generation sequencing-based multigene panel testing and multiplex ligation-dependent probe amplification testing | Second generation |