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. 2023 Aug 29;23:807. doi: 10.1186/s12885-023-11328-w

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