Table 2.
Rate of PVs by pathology and Manchester score.
| All Patients Tested for BRCA1/2 PVs (n = 5060) | Patients Included for Panel Testing (n = 1398) | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA1 | % | BRCA2 | % | Total | Total PVs BRCA1/2 | Panel Positive | % | Total Panel Tested | Non BRCA | Genes | |
| Lobular total | 4 | 1.2% | 19 | 5.6% | 341 | 6.74% | 11 | 8.6% | 128 | 7.8% | ATM(4), BRCA2(1), CDH1(1), CHEK2 (1), TP53(1), PALB2(3) |
| Lobular MSS ≥ 20 | 2 | 2.7% | 8 | 10.7% | 75 | 13.3% | 5 | 11.9% | 42 | 11.9% | ATM(2), TP53 (1), PALB2(2) |
| Lobular MSS < 20 | 2 | 0.75% | 11 | 4.1% | 266 | 4.9% | 6 | 6.98% | 86 | 5.8% | ATM(2), BRCA2(1), CDH1(1), CHEK2(1), PALB2(1) |
| Grade 1 total | 3 | 0.8% | 12 | 3.3% | 363 | 4.1% | 8 | 6.1% | 132 | 4.55% | ATM(2), BRCA2(2), BRIP1(2), CHEK2(1), TP53(1) |
| Grade 1 MSS ≥ 20 | 3 | 4.8% | 3 | 4.7% | 63 | 9.5% | 1 | 6.7% | 15 | 6.7% | BRIP1(1) |
| Grade 1 MSS < 20 | 0 | 0.0% | 9 | 3.0% | 300 | 3.0% | 7 | 5.98% | 117 | 4.3% | ATM(2), BRCA2(2), BRIP1(1), CHEK2(1), TP53(1) |
| IDC Grade 2 ER+ total | 10 | 1.3% | 70 | 9.2% | 763 | 10.5% | 23 | 8.98% | 256 | 4.3% | ATM(6), BRCA2(13), BRIP1(1), CHEK2(2), PALB2(1), RAD51C(1) |
| IDC Grade 2 ER+ MSS ≥ 20 | 8 | 4.3% | 38 | 20.5% | 185 | 24.8% | 13 | 25.5% | 51 | 7.8% | ATM(2), BRCA2(9), PALB2(1), RAD51C(1) |
| IDC Grade 2 ER+ MSS < 20 | 2 | 0.35% | 32 | 5.5% | 578 | 5.9% | 10 | 4.9% | 205 | 3.4% | ATM(4), BRCA2(3), BRIP1(1), CHEK2(2) |
| IDC Grade 3 ER+ total | 43 | 8.4% | 74 | 14.4% | 513 | 22.8% | 28 | 18.7% | 150 | 10.0% | ATM(4), BRCA1(6), BRCA1&BRCA2(1), BRCA2(6), CHEK2(3), PALB2(5), RAD51D(1), TP53(2) |
| IDC Grade 3 ER+ MSS ≥ 20 | 34 | 17.3% | 54 | 27.4% | 197 | 44.7% | 17 | 38.6% | 44 | 15.9% | ATM(2), BRCA1(6), BRCA1&BRCA2(1), BRCA2(3),CHEK2(1), PALB2(2), RAD51D(1), TP53(1) |
| IDC Grade 3 ER+ MSS < 20 | 9 | 2.85% | 20 | 6.33% | 316 | 9.2% | 11 | 10.4% | 106 | 7.55% | ATM(2), BRCA2(3), CHEK2(2), PALB2(3), TP53(1) |
| TNT total | 199 | 20.35% | 61 | 6.24% | 978 | 26.6% | 31 | 17.5% | 177 | 7.3% | ATM(1), BRCA1(14), BRCA2(4), BARD1(1), BRIP1(1), CHEK2(2), PALB2(7), RECQL(1) |
| TNT MSS ≥ 20 | 158 | 33.40% | 46 | 9.73% | 473 | 43.1% | 19 | 24.4% | 78 | 6.4% | BRCA1(12), BRCA2(2), BRIP1(1), CHEK2(1), PALB2(3) |
| TNT MSS < 20 | 41 | 8.12% | 15 | 2.97% | 505 | 11.1% | 12 | 12.1% | 99 | 8.1% | ATM(1), BRCA1(2), BRCA2(2), BARD1(1), CHEK2(1), PALB2(4), RECQL(1) |
| HER2+ total | 5 | 1.72% | 13 | 4.5% | 290 | 6.2% | 10 | 9.8% | 102 | 7.8% | ATM(3), BRCA2(2), CHEK2(1), PALB2(1), TP53(3) |
| HER2+ MSS ≥ 20 | 2 | 4.88% | 3 | 7.3% | 41 | 12.2% | 1 | 8.3% | 12 | 8.3% | PALB2(1) |
| HER2+ MSS < 20 | 3 | 1.20% | 10 | 4.2% | 249 | 5.2% | 9 | 10.0% | 90 | 7.8% | ATM(3), BRCA2(2), CHEK2(1), TP53(3) |
| DCIS total | 8 | 2.80% | 22 | 7.7% | 286 | 10.5% | 18 | 15.25% | 118 | 9.3% | ATM(4), BRCA2(7), BRIP1(1), CHEK2(3), PALB2(2), TP53(1) |
| DCIS MSS ≥ 20 | 4 | 7.55% | 11 | 20.75% | 53 | 28.3% | 5 | 33.3% | 15 | 13.3% | ATM(1), BRCA2(3), TP53(1) |
| DCIS MSS < 20 | 4 | 1.72% | 11 | 4.7% | 233 | 6.4% | 13 | 12.6% | 103 | 8.7% | ATM(3), BRCA2(4), BRIP1(1), CHEK2(3), PALB2(2) |
| NOS total | 115 | 7.54% | 106 | 6.95% | 1526 | 14.5% | 41 | 12.2% | 335 | 8.4% | ATM(7), BRCA1(5), BRCA2(8), BRIP1(1), CHEK2(12), PALB2(5), PTEN(1), TP53(2) |
| NOS MSS ≥ 20 | 97 | 21.95% | 79 | 17.9% | 442 | 39.8% | 16 | 18.6% | 86 | 10.5% | ATM(4), BRCA1(4), BRCA2(3), BRIP1(1), CHEK2(4) |
| NOS MSS < 20 | 18 | 1.66% | 27 | 2.5% | 1084 | 4.15% | 25 | 10.0% | 249 | 7.6% | ATM(3), BRCA1(1), BRCA2(5), CHEK2(8), PALB2(5), PTEN(1), TP53(2) |
| Total overall | 387 | 7.65% | 377 | 7.45% | 5060 | 15.1% | 170 | 12.2% | 1398 | 7.3% | ATM(31), BRCA1(25), BRCA2(42),BRCA1&BRCA2(1), BARD1(1), BRIP1(6), CDH1(1), CHEK2(25), PALB2(24), PTEN(1), TP53(10), RAD51C (1), RAD51D(1), RECQL(1) |
| MSS ≥ 20 | 308 | 20.14% | 242 | 15.8% | 1529 | 35.9% | 77 | 22.45% | 343 | 9.9% | ATM (11), BRCA1(22), BRCA2(20), BRCA1&BRCA2(1), BRIP1(3), CHEK2(6), PALB2(9), TP53(3), RAD51C (1), RAD51D(1) |
| MSS < 20 | 79 | 2.24% | 135 | 3.8% | 3531 | 6.1% | 93 | 8.8% | 1055 | 6.4% | ATM (20), BRCA1(3), BRCA2(22), BARD1(1), BRIP1(3), CDH1(1), CHEK2(19), PALB2(15), PTEN(1), TP53(7), RECQL(1) |