Table 5.
Deleterious Mutations by Breast Cancer Subtype (N = 488)
| Patients With TNBC Mutation (n = 87) | Patients With ER-Positive/HER2-Negative Mutation (n = 301) | Patients With ER-Negative/HER2-Positive Mutation (n = 37) | Patients With ER-Positive/HER2-Positive Mutation (n = 63) | |||||
|---|---|---|---|---|---|---|---|---|
| Genes | No. | % (95% CI) | No. | % (95% CI) | No. | % (95% CI) | No. | % (95% CI) |
| Any deleterious mutation* | 15 | 17.2 (10.0 to 26.8) | 26 | 8.6 (5.7 to 12.4) | 4 | 10.8 (3.0 to 25.4) | 7 | 11.1 (4.6 to 21.6) |
| Genes related to breast cancer* | 14 | 16.1 (9.1 to 25.5) | 24 | 8.0 (5.2 to 11.6) | 4 | 10.8 (3.0 to 25.4) | 7 | 11.1 (4.6 to 21.6) |
| BRCA1 or BRCA2 | 12 | 13.8 (7.3 to 22.9) | 15 | 5.0 (2.8 to 8.1) | 2 | 5.4 (0.7 to 18.2) | 1 | 1.6 (0.04 to 8.5) |
| BRCA1* | 11 | 12.6 (6.5 to 21.5) | 5 | 1.7 (0.5 to 3.8) | 2 | 5.4 (0.7 to 18.2) | 0 | 0.0 (0.0 to 5.7) |
| BRCA2* | 1 | 1.1 (0.03 to 6.2) | 10 | 3.3 (1.6 to 6.0) | 0 | 0.0 (0.0 to 9.5) | 1 | 1.6 (0.04 to 8.5) |
| Other genes related to breast cancer* | 2 | 2.3 (0.3 to 8.1) | 9 | 3.0 (1.4 to 5.6) | 2 | 5.4 (0.7 to 18.2) | 7 | 11.1 (4.6 to 21.6) |
| ATM* | 0 | 0.0 (0.0 to 4.2) | 3 | 1.0 (0.2 to 2.9) | 0 | 0.0 (0.0 to 9.5) | 1 | 1.6 (0.04 to 8.5) |
| BRIP1 | 1 | 1.1 (0.03 to 6.2) | 1 | 0.3 (0.01 to 1.8) | 0 | 0.0 (0.0 to 9.5) | 2 | 3.2 (0.4 to 11.0) |
| CHEK2* | 0 | 0.0 (0.0 to 4.2) | 4 | 1.3 (0.4 to 3.4) | 2 | 5.4 (0.7 to 18.2) | 4 | 6.3 (1.8 to 15.5) |
| NBN | 1 | 1.1 (0.03 to 6.2) | 0 | 0.0 (0.0 to 1.2) | 0 | 0.0 (0.0 to 9.5) | 0 | 0.0 (0.0 to 5.7) |
| PALB2 | 0 | 0.0 (0.0 to 4.2) | 1 | 0.3 (0.01 to 1.8) | 0 | 0.0 (0.0 to 9.5) | 0 | 0.0 (0.0 to 5.7) |
| PTEN | 0 | 0.0 (0.0 to 4.2) | 1 | 0.3 (0.01 to 1.8) | 0 | 0.0 (0.0 to 9.5) | 0 | 0.0 (0.0 to 5.7) |
| Genes not clearly related to breast cancer* | 2 | 2.3 (0.3 to 8.1) | 2 | 0.7 (0.1 to 2.4) | 0 | 0.0 (0.0 to 9.5) | 0 | 0.0 (0.0 to 5.7) |
| MSH6 | 0 | 0.0 (0.0 to 4.2) | 1 | 0.3 (0.01 to 1.8) | 0 | 0.0 (0.0 to 9.5) | 0 | 0.0 (0.0 to 5.7) |
| PMS2* | 1 | 1.1 (0.03 to 6.2) | 0 | 0.0 (0.0 to 1.2) | 0 | 0.0 (0.0 to 9.5) | 0 | 0.0 (0.0 to 5.7) |
| RAD51C | 0 | 0.0 (0.0 to 4.2) | 1 | 0.3 (0.01 to 1.8) | 0 | 0.0 (0.0 to 9.5) | 0 | 0.0 (0.0 to 5.7) |
| RAD51D | 1 | 1.1 (0.03 to 6.2) | 0 | 0.0 (0.0 to 1.2) | 0 | 0.0 (0.0 to 9.5) | 0 | 0.0 (0.0 to 5.7) |
NOTE. No mutations were identified in the following genes: BARD1; CDH1; STK11; TP53; APC; BMPR1A; CDK4; CDKN2A p14; CDKN2A p16; EPCAM; MLH1; MSH2; MUTYH (biallelic); and SMAD4.
Abbreviations: HER2, human epidermal growth factor receptor 2; HR, hormone receptor; TNBC, triple-negative breast cancer.
*
One HR-positive/HER2-positive patient had deleterious mutations in both BRCA2 and ATM. One TNBC patient had deleterious mutations in both BRCA1 and PMS2. One HR-positive/HER2-negative patient had deleterious mutations in both ATM and CHEK2.