Table 2. Comparison of studies examining breast and/or ovarian cancer patients negative for the BRCA1/2 testing.
| This study | Tung, et al. [10] | Hirotsu, et al. [13] | Park, et al. [17] | |
|---|---|---|---|---|
| Patients (N) | 120 | 377 | 155 | 120 |
| NGS platform | Ion S5 system (Thermo Fisher) | HiSeq2500 or MiSeq (Illumina) | Ion S5 System (Thermo Fisher) | MiSeq (Illumina) |
| Target genes in panel (N) | 25 | 25 | 25 | 35 |
| Frequency of pathogenic variant (%) | 3.3 | 4.3 | 1.9 | 7.5 |
| Genes with identified pathogenic variant | MSH2, PMS2, CHEK2, PALB2 | CHEK2, ATM, PALB2, BARD1, NBN, CDH1, MUTYH, APC, CDK2NA | ATM, MRE11A, MSH6 | TP53, PALB2, BARD1, BRIP1, MRE11A |
| Population | Korean | Not disclosed | Japanese | Korean |
Abbreviation: NGS, next-generation sequencing.