Table 1.
Reference | Country of origin | Reported genetic testing information | Reported patient selection criteria | Total N | Purpose for this study |
---|---|---|---|---|---|
Melhem-Bertrandt et al., 2012 | USA | Sequencing done at outside CLIA certified laboratories | Women with suspected LFS due to personal and/or family history and diagnosed with breast cancer between 2000 to 2011 | 119 | Meta-analysis of available summary data to compare with results from our individual level study datasets (shown in Table 2) |
Slavin et al., 2017 | USA | Sequencing done for 26 known or proposed breast cancer susceptibility genes | BRCA1/2-negative women with familial breast cancer from four academic health centers in the USA | 2134 | |
Hauke et al., 2018 | Germany | Sequencing done at each participating center using Illumina sequencing platforms | Patients meeting the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germ line testing (familial cancer cases, patients with early onset breast cancer, bilateral breast cancer, or both breast and ovarian cancer) | 2856 | |
Packwood et al., 2019* | UK | Unreported | Women affected by early onset breast cancer | 1296 |
Overlaps with Wilson et al., 2010, which reported on a subset of 9 TP53 carriers and 161 non-carriers from the same cohort.