Table 1.
BRCA1/2 mutation prevalences in triple-negative breast cancer (TNBC) patients not selected for age at first diagnosis or family history of breast and/or ovarian cancer
| TNBC cases (unselected), n | Proportion BRCA1 positive, n (%) | Proportion BRCA2 positive, n (%) | Proportion BRCA1/2 positive, n (%) | Reference |
|---|---|---|---|---|
| 77 | 11 (14.3) | 3 (3.9) | 14 (18.2) | [29] |
| 199 | 13 (6.5) | 8 (4.0) | 21 (10.6) | [30] |
| 990 | 71 (7.2)a | 22 (2.2)a | 93 (9.4)a | [35] |
| 1,824 | 155 (8.5)a | 49 (2.7)a | 204 (11.2)a | [26] |
| 291 | 43 (14.7) | 7 (2.4) | 50 (17.1) | [36] |
| 105 | 13 (12.4) | 2 (1.9) | 15 (14.3) | [37] |
| 774 | 44 (5.7)a | 30 (3.9)a | 74 (9.9)a | [31] |
| 207 | 23 (11.1)b | 9 (4.3)b | 32 (15.5)b | [27] |
a
Study does not cover larger deletions/duplications (copy number variations, CNVs) within the BRCA1/2 genes.
b
Only a subset of patients was screened for CNVs. According to a GeparSixto investigation, pathogenic CNVs in the BRCA1/2 genes were found in approximately 1.7% of unselected TNBC patients [36].