Table 2.
Clinical characteristics of study patients by mutation status.
N | Genetic status | Mutation breakdown | |||||||
---|---|---|---|---|---|---|---|---|---|
OC genes | Other genes | ||||||||
WTa | MUTb | BRCA1 | BRCA2 | MSH2 | RAD51D | CHEK2 | NBN | ||
Number of subjects | 47 | 32 | 13 | 10 | 1 | 1 | 1 | 1 | 1 |
Median age at dx (range) | 37 (27–40) | 36 (27–40) | 38 (31–40) | 37.5 (31–40) | 40 | 38 | 34 | 40 | 38 |
Strong family historyc | 17 | 9 (52.9%) | 8 (47.1%) | 7 (41.2%) | 1 (5.9%) | 0 | 0 | 0 | NA |
Personal hx of br ca | 2 | 0 | 2 (100%) | 2 (100%) | 0 | 0 | 0 | 0 | 0 |
Optimally debulked (<1 cm)d | |||||||||
Yes | 32 | 22 (68.8%) | 10 (31.2%) | 7 (21.9%) | 1 (3.1%) | 1 (3.1%) | 1 (3.1%) | 1 | 1 |
No | 6 | 5 (83.3%) | 1 (16.7%) | 1 (16.7%) | 0 | 0 | 0 | 0 | 0 |
Histology | |||||||||
HG serous | 21 | 14 (66.7%) | 7 (33.3%) | 6 (28.6%) | 1 (4.8%) | 0 | 0 | 0 | 0 |
Undifferentiated carcinoma | 2 | 1 (50%) | 1 (50%) | 1 (50%) | 0 | 0 | 0 | 0 | 0 |
LG serous | 7 | 7 (100%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Endometrioid | 7 | 3 (42.9%) | 4 (57.1%) | 2 (22.2%) | 0 | 1 (11.1%) | 1 (11.1%) | 1 (11.1%) | 1 (11.1%) |
Clear cell | 5 | 4 (80%) | 1 (20%) | 1 (20%) | 0 | 0 | 0 | 0 | 0 |
Mucinous | 3 | 3 (100%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
FIGO stagee | |||||||||
Stage I | 5 | 4 (80%) | 1 (20%) | 0 | 0 | 0 | 1 (14.3%) | 1 (14.3%) | 1 (14.3%) |
Stage II | 5 | 3 (60%) | 2 (40%) | 1 (20%) | 0 | 1 (20%) | 0 | 0 | 0 |
Stage III | 27 | 20 (74.1%) | 7 (25.9%) | 6 (22.2%) | 1 (3.7%) | 0 | 0 | 0 | 0 |
Stage IV | 5 | 3 (60%) | 2 (40%) | 2 (40%) | 0 | 0 | 0 | 0 | 0 |
Abbreviations:
OC = ovarian carcinoma, WT = wildtype, MUT = mutant, dx = diagnosis, NA = data not available, hx = history, br ca = breast carcinoma, HG serous = high grade serous (grade 2 or 3), LG serous = low grade serous (grade 1).
No damaging mutations detected in any genes tested.
Damaging mutation detected in an “OC” gene.
A relative with OC, a relative with br ca < 50 years of age, or two relatives with br ca at any age.
Two BRCA1, 5 WT have unknown debulking status.
Stage was not available for three cases.