Table 1.
Clinicopathological characteristics of patient cohorts.
| High-Risk (HR) Cancer Patient | Unselected Cancer Control (CC) Patient | Benign Disease (NC) Patient | p-Value | |||
|---|---|---|---|---|---|---|
| Fulfill NCCN Testing Criteria | Not Fulfill NCCN Testing Criteria | |||||
| n = 3935 | n = 90 | n = 217 | n = 99 | |||
| Age at recruitment (Median/Range) | ||||||
| Mean | 49.4 | 55.7 | 60.9 | 45.9 | - | |
| Median | 47.6 | 55.3 | 59.8 | 47.0 | - | |
| Range | 19.3–95.8 | 32.1–90.6 | 45.0–82.5 | 20.8–84.9 | - | |
| No. of patients identified P/LP (30 genes) | 463 ^ | 10 | 10 * | 8 | - | |
| Overall mutation % | 11.9% (469/3935) |
6.5% (20/307) | 8.1% (8/99) |
0.0174 | ||
| 11.1% | 4.6% | |||||
|
Mutation % in high penetrance genes (BRCA1/2, PALB2, CDH1, PTEN, TP53) |
10.4% (410/3935) |
6.7% (6/90) |
1.8% (4/217) |
0% | <0.0001 | |
| Mutation % in moderate and low penetrance genes | 1.5% (59/3935) |
4.4% (4/90) |
2.8% (6/217) |
8.1% (8/99) |
<0.0001 | |
| Personal breast disease | ||||||
| Breast cancer | 3935 | 90 | 217 | - | - | |
| Fibro-epithelial tumors | - | - | - | 55 (55.6%) | - | |
| Other benign tumors | 14 (14.1%) | |||||
| Fibrocystic changes | 11 (11.1%) | |||||
| Other non-neoplastic | 8 (8.1%) | |||||
| Inflammatory | 6 (6.1%) | |||||
| Undefined | 3 (3.0%) | |||||
| Congenital anomalies | 2 (2.0%) | |||||
| Histology | ||||||
| Ductal | 3312 (70.4%) | 81 (90%) | 179 (82.5%) | - | - | |
| In situ | 771 (16.4%) | 1 (1.1%) | 2 (0.9%) | - | ||
| Other | 446 (9.5%) | 8 (8. 9%) | 35 (16.1%) | - | ||
| Unclassified | 174 (3.7%) | 0 (0%) | 1 (0.5%) | - | ||
| Molecular subtypes | ||||||
| Luminal A (Her2−) | 2080 (52.9%) | 51 (57.3%) | 202 (94%) | - | - | |
| Luminal B (Her2+) | 476 (12.1%) | 0 (0%) | 9 (4.2%) | - | ||
| Luminal A/B (Her2 unknown/equivocal) | 221 (5.6%) | 0 (0%) | 1 (0.5%) | - | ||
| TNBC | 593 (15.1%) | 20 (22.5%) | - | - | ||
| Histology (invasive) grade | ||||||
| Low | 2078 (63.9%) | 49 (57.0%) | 151 (73.7%) | - | - | |
| High | 1174 (36.1%) | 37 (43.0%) | 54 (26.3%) | - | ||
| No information | 680 | 3 | 9 | - | ||
| Stage of breast | ||||||
| 0 | 824 (18.6%) | 0 (0%) | 0 (0%) | - | - | |
| 1 | 1643 (37.1%) | 40 (45.5%) | 83 (38.6%) | - | ||
| 2 | 1332 (30.0%) | 31 (35.2%) | 104 (48.4%) | - | ||
| 3 | 483 (10.9%) | 17 (19.3%) | 24 (11.2%) | - | ||
| 4 | 151 (3.4%) | 0 (0%) | 4 (1.9%) | - | ||
| No information | 270 | 2 | 2 | - | ||
| Family history (1st or 2nd degree) | ||||||
| Breast cancer | 1604 (40.8%) | 33 (36.7%) | 15 (6.9%) | 6 (6.1%) | <0.0001 | |
| Ovarian cancer | 195 (5.0%) | 5 (5.6%) | 0 (0.0%) | 1 (1.1%) | 0.0047 | |
| Other BRCA related cancer $ | 1208 (30.7%) | 13 (14.4%) | 29 (13.4%) | 19 (19.2%) | <0.0001 | |
^ 7 probands & * 1 proband carried double pathogenic mutations. $ Other BRCA related cancer: prostate cancer, pancreatic cancer, colorectal cancer, stomach cancer, melanoma, cholangiocarcinoma.