BRCA1/2 molecular diagnostics at patients with epithelial ovarian cancer under 50 years of age
| Patient code | BRCA1 HGVS C.DNA* | BRCA1 HGVS protein* | Type | BRCA2 HGVS c.DNA* | BRCA2 HGVS protein* | Type |
|---|---|---|---|---|---|---|
| 1A01 | c.5377A>T | p.(Lys1793*) | Nonsense | |||
| 2A01 | c.68_69delAG | p.(Glu23Valfs*17) | Frameshift | c.7195A>G | p.(Thr2399Ala) | Missense(UV) |
| c.1067A>G | p.(Gln356Arg) | Missense(UV) | ||||
| 2A02 | c.9117G>A | p.(Pro3039Pro) | Synonimus and splicing | |||
| 2A03 | c.3018_3021delTTCA | p.(His1006Glnfs*17) | Frameshift | |||
| 2A04 | c.181T>G | p.(Cys61Gly) | Missense | |||
| 3A01 | c.3265C>T | p.(Gln1089*) | Nonsense | |||
| 3A02 | c.181T>G | p.(Cys61Gly) | Missense | |||
| 3A03 | c.844_850dupTCATTAC | p.(Gln284Leufs*5) | Frameshift | |||
| 3A04 | c.191G>A | p.(Cys64Tyr) | Missense | |||
| 4A01 | c.1687C>T | p.(Gln563*) | Nonsense | |||
| 4A02 | c.3718C>T | p.(Gln1240*) | Nonsense | |||
| 4A03 | c.1687C>T | p.(Gln563*) | Nonsense | |||
| 4A04 | c.5101C>T | p.(Gln1701*) | Nonsense | |||
| 4A05 | c.5266dupC | p.(Gln1756Profs*74) | Frameshift |
Clinicopathologic characteristics at BRCA tested patients with EOC at age under 50 years
| BRCA+Ovarian cancers N = 15 | BRCA-Ovarian cancers N = 28 | p | ||
|---|---|---|---|---|
| Age at 1st cancer | mean | 40.8 | 36.9 | 0.149 (t test) |
| Age at the ovarian cancer | mean | 42.8 | 37.1 | 0.036 (t test) |
| first | 11 | 23 | ||
| Sequence of the ovarian cancer | second | 3 | 0 | 0.037 (exact χ2) |
| paralel to 1st | 1 | 5 | ||
| I | 4 (26.7%) | 17 (60.7%) | 0.055 (exact χ2) | |
| Stage of the ovarian cancer (FIGO) | II | 4 (26.7%) | 2 (7.1%) | |
| III | 5 (33.3%) | 7 (25.0%) | ||
| IV | 2 (13.3%) | 2 (7.1%) | ||
| serous | 6 (40%) | 13 (46.4%) | ||
| mucinous | 0 | 3 (10.7%) | ||
| endometrioid | 7 (46.7%) | 7 (25.0%) | ||
| Hystology Type of the Ovarian cancer | clearcell | 0 | 2 (7.1%) | 0.451(exact χ2) |
| mixed Ca | 2 (13.3%) | 1 (3.6%) | ||
| mixed Ca+Sa | 0 | 1 (3.6%) | ||
| unknown | 0 | 1 (3.6%) | ||
| borderline | 1 (6.7%) | 1 (3.6%) | ||
| first | 1 (6.7%) | 11 (39.3%) | ||
| Grade of the Ovarian cancer | second | 3 (20.0%) | 9 (32.1%) | 0.008(exact χ2) |
| third | 10 (66.7%) | 6 (21.4%) | ||
| unidentifiable | 0 | 1 (3.6%) |
Other cancers characteristics in BRCA tested patients with EOC at age under 50 years
| BRCA + N = 14 | BRCA - N = 28 | p | ||
|---|---|---|---|---|
| Previous invasive | Yes | 2 | 0 | P = 0.106(exact X2 ) |
| breast cancer | No | 12 | 28 | |
| Later invasive breast | Yes | 3 | 0 | P = 0.032 (exact X2 ) |
| cancer | No | 11 | 28 | |
| Occurrence of DCIS | Yes | 0 | 2 | P = 0.545 (exact X2 ) |
| breast cancer | No | 14 | 26 | |
| Concurrent | ||||
| Endometrial Cancer | Yes | 0 | 5 | P = 0.151 (exact X2 ) |
| No | 14 | 23 | ||
| (with ovarian one) |
Family history of BRCA tested patients with EOC before age 45, diagnosed 1999–2008
| gBRCAm + N = 5 | gBRCAm − N = 22 | p (Fisher’s exact test) | ||
|---|---|---|---|---|
| Family history(of any | Positive | 5 | 14 | p = 0.280 |
| cancer at 1st or 2nd degree) | Negative | 0 | 8 | |
| Family history of 1st- | Positive | 1 | 1 | p = 0.342 |
| degreebreast cancer | Negative | 4 | 21 | |
| Family history of 1st- | Positive | 2 | 0 | P = 0.028 |
| degreeovarian cancer | Negative | 3 | 22 |