Table 2.
Characteristics of 25 epithelial ovarian cancer patients with a pathogenic BRCA1/2 hereditary variant identified with the universal tumor BRCA1/2 workflow
| Gene | Mutation c.* | Mutation p.* | Mutation position | Age OC, y | OC histology | FIGO stage | NCCN guideline | Personal history of breast cancer | FDR/SDR family history |
|
|---|---|---|---|---|---|---|---|---|---|---|
| Breast cancer | OC | |||||||||
| BRCA1 | c.68_69del | p.(Glu23fs) | Neither | 50 | HGS | IIIc | Familial | – | FDR 48 | SDR 56 |
| BRCA1 | c.633C>T | p.(Gln172*) | Neither | 56 | HGS | IIIc | Personal | 47 ER- PR- Her2- | FDR 35 + 36, FDR 44, FDR 41 + 54, SDR 35, SDR 38, SDR 48 | SDR 61 |
| BRCA1 | c.981_982del | p.(Cys328*) | Neither | 55 | Undifferentiated | n/a | Personal | 53 TN | – | – |
| BRCA1 | c.2197_2201del | p.(Glu733fs) | OCCR | 57 | HGS | n/a | Familial | – | FDR 54 | FDR 53, FDR 84 |
| BRCA1 | c.2197_2201del | p.(Glu733fs) | OCCR | 73 | HGS | IIIc | No | – | FDR 70 | – |
| BRCA1 | c.2338C>T | p.(Gln780*) | OCCR | 41 | HGS | n/a | Familial | – | – | SDR 54 |
| BRCA1 | c.2685_2686del | p.(Pro897fs) | OCCR | 64 | HGS | n/a | Personal | 52 ER- PR- Her2? | SDR <40, SDR, SDR | – |
| BRCA1 | c.2722G>T | p.(Glu908*) | OCCR | 58 | HGS | n/a | Familial | – | FDR 41, SDR 65-70, SDR <43 | – |
| BRCA1 | c.2722G>T | p.(Glu908*) | OCCR | 67 | HGS | n/a | Personal | 53 TN | FDR 55 | – |
| BRCA1 | c.5095C>T | p.(Arg1699Trp) | Neither | 65 | HGS | n/a | Familial | – | FDR 36, SDR 75 | – |
| BRCA1 | c.5216A>T | p.(Asp1739Val) | Neither | 58 | HGS | n/a | No | – | FDR 57, SDR | – |
| BRCA1 | c.5291T>C | p.(Leu1764Pro) | BCCR | 42 | HGS | IV | No | – | – | – |
| BRCA1 | c.5309C>T | p.(Gly1770Val) | BCCR | 35 | HGS | Ic | No | – | – | – |
| BRCA2 | c.1147del | p.(Ile383fs) | BCCR | 49 | Clear cell | Ia | No | – | – | – |
| BRCA2 | c.3814del | p.(Met1272fs) | OCCR | 57 | HGS | n/a | No | 55 ER+ HR+ Her2? | – | – |
| BRCA2 | c.4314del | p.(Ala1439fs) | OCCR | 61 | Undifferentiated | II | No | – | – | – |
| BRCA2 | c.4449del | p.(Asp1484fs) | OCCR | 65 | Carcinosarcoma | n/a | No | – | – | – |
| BRCA2 | c.5213_5216del | p.(Thr1738fs) | OCCR | 51 | HGS | n/a | No | – | SDR 50 | – |
| BRCA2 | c.5213_5216del | p.(Thr1738fs) | OCCR | 55 | HGS | n/a | No | – | – | – |
| BRCA2 | c.5213_5216del | p.(Thr1738fs) | OCCR | 57 | HGS | IIIc | No | – | – | – |
| BRCA2 | c.5213_5216del | p.(Thr1738fs) | OCCR | 70 | HGS | n/a | Familial | – | FDR 44/52 | FDR 79 |
| BRCA2 | c.5645C>A | p.(Ser1882*) | OCCR | 52 | HGS | n/a | Familial | – | FDR 36 | – |
| BRCA2 | c.6275_6276del | p.(Leu2092fs) | Neither | 64 | HGS | n/a | Familial | 64 | FDR 45 | – |
| BRCA2 | c.7617 + 1G>T | p.? | Neither | 73 | HGS | n/a | Personal | 68 | FDR 35, FDR 57, FDR 65, SDR 40 | – |
| BRCA2 | c.9672dup | p.(Tyr322fs) | Neither | 79 | HGS | IIIc | No | 62 | – | – |
*
Variant nomenclature according to Human Genome Variation Society guidelines (varnomen.hgvs.org). FDR = first-degree relative; FIGO = International Federation of Gynecology and Obstetrics; HGS = high-grade serous; n/a = not available; NCCN = National Comprehensive Cancer Network; OC = epithelial ovarian cancer; SDR = second-degree relative; – = a negative history.