Table 1.
Baseline characteristics
| Baseline characteristics | BRCA mutation carrier (n = 36) | Sig.* | BRCA1 mutation carrier (n = 18) | Sig.* | BRCA2 mutation carrier (n = 18) | Sig.* | Control (n = 126) |
|---|---|---|---|---|---|---|---|
| Female age (years) | 30.4 (± 2.8) | 0.80 | 31.0 (± 2.9) | 0.32 | 29.7 (± 2.6) | 0.55 | 30.4 (± 4.0) |
| Female BMI (kg/m2) | 22.7 (± 3.4) | 0.27 | 23.1 (± 4.3) | 0.49 | 22.4 (± 2.2) | 0.34 | 23.6 (± 3.9) |
| Caucasian | 36 (100%) | 0.20 | 18 (100%) | 0.60 | 18 (100%) | 0.60 | 118 (93.7%) |
| Smoking | 2 (5.6%) | 1.000 | 0 (0%) | 0.60 | 2 (11.1%) | 0.63 | 9 (7.1%) |
| Alcohol | 18 (50%) | 0.93 | 9 (50%) | 0.95 | 9 (50%) | 0.95 | 62 (49.2%) |
| Drugs | 1 (2.8%) | 0.40 | 0 (0%) | 1.000 | 1 (5.6%) | 0.23 | 1 (0.8%) |
| PGT indication | |||||||
| Female BRCA1 mutation carrier | 18 (50%) | 18 (100%) | NA | N/A | |||
| Female BRCA2 mutation carrier | 18 (50%) | NA | 18 (100%) | N/A | |||
| Female non BRCA mutation carrier | N/A | NA | NA | 73 (57.9%) | |||
| Male non BRCA mutation carrier | N/A | NA | NA | 53 (42.1%) | |||
| Cycle information | |||||||
| Age at menarche (years) | 13.3 (± 1.4) | 0.23 | 13.5 (± 1.4) | 0.10 | 13.0 (± 1.4) | 0.87 | 13.0 (± 1.4) |
| Mean length of menstrual cycle (days) | 28.0 (± 1.3) | 0.25 | 28.2 (± 1.1) | 0.61 | 27.7 (± 1.3) | 0.25 | 28.4 (± 1.7) |
| Reproductive history | |||||||
| Subfertility | 3 (8.3%) | 0.71 | 2 (11.1%) | 0.36 | 1 (5.6%) | 1.000 | 8 (6.3%) |
| Prior fertility treatment | 2 (5.6%) | 0.21 | 2 (11.1%) | 0.08 | 0 (0%) | 1.000 | 2 (1.6%) |
| Nulliparity | 30 (83.3%) | 0.08 | 16 (88.9%) | 0.07 | 14 (77.8%) | 0.41 | 86 (68.3%) |
| Nulligravidity | 29 (80.6%) | 0.07 | 16 (88.9%) | 0.03 | 13 (72.2%) | 0.51 | 81 (64.3%) |
| Live birth | 5 (13.9%) | 0.11 | 2 (11.1%) | 0.24 | 3 (16.7%) | 0.56 | 34 (27%) |
| Family history | |||||||
| Early menopause (age < 40 years) | 1 (2.8%) | 0.22 | 0 (0%) | NA | 1 (5.6%) | 0.13 | 0 (0%) |
| Subfertilitya | 3 (8.3%) | 0.38 | 1 (5.6%) | 0.56 | 2 (11.1%) | 0.21 | 5 (4.0%) |
| Menopausal age mother (years) | 49.1 (± 5.8) | 0.47 | 51.5 (± 6.3) | 0.53 | 47.9 (± 5.2) | 0.17 | 50.4 (± 4.4) |
| Breast or ovarian cancer | 33 (91.7%) | < 0.001 | 16 (88.9%) | < 0.001 | 17 (94.4%) | < 0.001 | 7 (5.7%) |
Values presented as number (%) in categorical variables, values presented as mean (SD) in continuous variables. BMI, body-mass index; PGT, pre-implantation genetic testing; EUG, extra uterine gravidity; no, number; NA, not applicable; SD, standard deviation; CI, confidence interval. *P-values comparing values in carriers vs controls, calculated using Fisher’s exact/chi-square or Mann–Whitney U.aSubfertility issues in mother, sister and/or aunt (mothers side) necessitating referral for fertility investigation or treatment