Table 1.
Characteristics of all women (heterozygotes and non-carriers of the familial CHEK2 c.1100delC variant) included in this study.
|
Number |
Heterozygotes |
Non-carriers |
||
|---|---|---|---|---|
| 58 | 59 | P-value | ||
| Center, n (%) | AVL | 22 (37.9) | 26 (44.1) | 0.50 |
| Erasmus MC | 36 (62.1) | 33 (55.9) | ||
| Birth cohort, n (%) | <1960 | 4 (6.9) | 6 (10.1) | 0.69 |
| 1960–1970 | 16 (27.6) | 18 (30.5) | ||
| 1970–1980 | 22 (37.9) | 17 (28.8) | ||
| 1980–1990 | 11 (19.0) | 15 (25.4) | ||
| >1990 | 5 (8.6) | 3 (5.1) | ||
| Distant relative from the index in pedigree, n (%) | First-degree | 42 (72.4) | 42 (71.2) | 0.98 |
| Second-degree | 10 (17.2) | 11 (18.6) | ||
| Third-degree | 6 (10.3) | 6 (10.2) | ||
| Age at time of genetic testing | Mean ± SD | 43.7 ± 10.2 | 45.9 ± 11.3 | 0.27 |
| RISK FACTORS | ||||
| Height, cm | Mean ± SD | 172.7 ± 6.0 | 171.0 ± 5.4 | 0.15 |
| Unknown | 8 | 12 | ||
| Alcohol use, grams per day | None, n (%) | 25 (48.1) | 26 (50.0) | 1.00 0.48 |
| Mean ± SD | 83.7 ± 57.5 | 96.6 ± 65.5 | ||
| Unknown | 9 | 7 | ||
| Age menarche, years | Mean ± SD | 13.0 ± 1.5 | 12.9 ± 1.3 | 0.67 |
| Unknown | 8 | 8 | ||
| Age menopause, years | Premenopausal, n(%) | 34 (65.4) | 28 (56.0) | 0.33 0.89 |
| Mean ± SD | 46.6 ± 9.0 | 46.3 ± 7.6 | ||
| Unknown | 7 | 9 | ||
| Number of children, n (%) | 0 | 8 (15.4) | 9 (17.7) | 0.96 |
| 1 | 5 (9.6) | 6 (11.8) | ||
| 2 | 26 (50.0) | 25 (49.0) | ||
| >2 | 13 (25.0) | 11 (21.6) | ||
| Unknown | 6 | 8 | ||
| Age at first childbirth, years | Mean ± SD | 31.6 ± 4.4 | 30.6 ± 3.8 | 0.25 |
| No children | 8 | 9 | ||
| Unknown | 8 | 5 | ||
| Use of oral contraception, n (%) | Never | 2 (3.9) | 1 (2.0) | 0.57 |
| Ever | 50 (96.2) | 50 (98.0) | ||
| Unknown | 6 | 8 | ||
| Use hormone replacement therapy, n(%) | Never | 52 (100.0) | 46 (90.4) 5 (9.6) 7 |
0.02 |
| Ever | – | |||
| Unknown | 6 | |||
| Body mass index, kg/m2 | Mean ± SD | 25.5 ± 4.9 | 26.2 ± 4.0 | 0.45 |
| Unknown | 9 | 12 | ||
| Standardized PRS313, Z-score | Mean | 0.479 | 0.444 | 0.84 |
| SD | 1.002 | 0.851 | ||
| Raw PRS313 | Mean | −0.132 | −0.153 | 0.84 |
| SD | 0.612 | 0.520 | ||
| Standardized PRS311, Z-score | Mean | 0.197 | 0.456 | 0.13 |
| SD | 0.988 | 0.848 | ||
| Raw PRS311 | Mean | 0.028 | 0.186 | 0.13 |
| SD | 0.601 | 0.516 | ||
| Breast density, n (%) | BIRADS A | 2 (5.0) | 1 (5.6) | 0.87 |
| BIRADS B | 15 (37.5) | 8 (44.4) | ||
| BIRADS C | 15 (37.5) | 7 (38.9) | ||
| BIRADS D | 8 (20.0) | 2 (11.1) | ||
| Unknown | 18 | 41 | ||
PRS313 = polygenic breast cancer risk score based on 313 variants; PRS311 = alternative polygenic risk score based on 311 BC-associated variants. *Percentages may not add up to 100 % due to rounding.