Table 2. List of pathogenic germline variants in tested genes and clinicopathological features of patients with OC.
| Patient ID | Age | Gene | Refseq ID | Nucleotide change | Amino acid change | Disease site | Other cancersa | Histological subtype | Stage | Personal history of breast cancer | Breast cancer patients in familyb | Ovarian cancer patients in familyb | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | OC102 | 39 | BRCA1 | NM_007294.3 | c.4073_4074del | p.(Glu1358Alafs*9) | ovary | none | high-grade serous | III | No | 0 | 1 |
| 2 | OC088 | 59 | BRCA1 | NM_007294.3 | c.2860_2864del | p.(Leu954Ilefs*15) | ovary | none | high-grade serous | III | No | 0 | 1 |
| 3 | OC386 | 42 | BRCA1 | NM_007294.3 | c.188T>A | p.(Leu63*) | ovary | none | high-grade serous | III | No | 0 | 0 |
| 4 | OC315 | 36 | BRCA1 | NM_007294.3 | c.5095C>T | p.(Arg1699Trp) | ovary | none | high-grade serous | III | No | 0 | 0 |
| 5 | OC677 | 49 | BRCA1 | NM_007294.3 | c.4870_4871insA | p.(Gly1624Glufs*3) | ovary | none | high-grade serous | II | No | 0 | 0 |
| 6 | OC252 | 42 | BRCA1 | NM_007294.3 | c.188T>A | p.(Leu63*) | ovary | none | clear cell | I | No | 0 | 0 |
| 7 | OC613 | 46 | BRCA1 | NM_007294.3 | c.188T>A | p.(Leu63*) | ovary | none | high-grade serous | III | No | 0 | 0 |
| 8 | OC253 | 27 | BRCA1 | NM_007294.3 | c.2188G>T | p.(Glu730*) | ovary | none | endometrioid | IV | No | 1 | 0 |
| 9 | OC600 | 50 | BRCA1 | NM_007294.3 | c.456_457del | p.(Ser153Cysfs*5) | ovary | none | high-grade serous | II | No | 2 | 1 |
| 10 | OC672 | 54 | BRCA1 | NM_007294.3 | c.4065_4068del | p.(Asn1355Lysfs*10) | ovary | none | high-grade serous | IV | No | 1 | 0 |
| 11 | OC644 | 44 | BRCA1 | NM_007294.3 | c.2111del | p.(Asn704Metfs*32) | ovary | none | others | IV | No | 1 | 0 |
| 12 | OC070 | 49 | BRCA1 | NM_007294.3 | c.3442del | p.(Glu1148Argfs*7) | ovary | CC | high-grade serous | III | No | 0 | 0 |
| 13 | OC268 | 48 | BRCA1 | NM_007294.3 | c.188T>A | p.(Leu63*) | peritoneal | none | high-grade serous | IV | No | 0 | 0 |
| 14 | OC328 | 47 | BRCA1 | NM_007294.3 | c.2800C>T | p.(Gln934*) | fallopian tube | none | high-grade serous | III | No | 0 | 0 |
| 15 | OC691 | 48 | BRCA 1 | NM_007294.3 | BRCA1 del (ex20–23e) | gross deletion | ovary | BC | high-grade serous | II | Yes | 1 | 2 |
| 16 | OC080 | 40 | BRCA1 | NM_007294.3 | c.3627dup | p.(Glu1210Argfs*9) | ovary | none | high-grade serous | IV | No | NA | NA |
| 17 | OC002 | 42 | BRCA1 | NM_007294.3 | c.2800C>T | p.(Gln934*) | ovary | none | high-grade serous | III | No | NA | NA |
| 18 | OC323 | 51 | BRCA1 | NM_007294.3 | c.2800C>T | p.(Gln934*) | ovary | none | high-grade serous | III | No | NA | NA |
| 19 | OC154 | 39 | BRCA1 | NM_007294.3 | c.4487C>A | p.(Ser1496*) | ovary | none | high-grade serous | III | No | NA | NA |
| 20 | OC634 | 56 | BRCA2 | NM_000059.3 | c.1813del | p.(Ile605Tyrfs*9) | ovary | none | high-grade serous | III | No | 1 | 2 |
| 21 | OC681 | 77 | BRCA2 | NM_000059.3 | c.1125del | p.(Phe376Leufs*23) | ovary | none | high-grade serous | II | No | 0 | 0 |
| 22 | OC622 | 58 | BRCA2 | NM_000059.3 | c.5560_5561del | p.(Val1854Phefs*3) | ovary | none | high-grade serous | III | No | 0 | 0 |
| 23 | OC629 | 50 | BRCA2 | NM_000059.3 | c.3599_3600del | p.(Cys1200*) | ovary | none | high-grade serous | IV | No | 0 | 0 |
| 24 | OC004 | 61 | BRCA2 | NM_000059.3 | c.6952C>T | p.(Arg2318*) | ovary | none | high-grade serous | IV | No | 0 | 0 |
| 25 | OC025 | 70 | BRCA2 | NM_000059.3 | c.7482_7483insCC | p.(Ile2495Profs*30) | ovary | PC | endometriod | III | No | 0 | 0 |
| 26 | OC047 | 67 | BRCA2 | NM_000059.3 | c.5576_5579del | p.(Ile1859Lysfs*3) | ovary | BC | clear cell | I | Yes | 0 | 0 |
| 27 | OC076 | 69 | BRCA2 | NM_000059.3 | c.6656C>G | p.(Ser2219*) | ovary | none | high-grade serous | III | No | NA | NA |
| 28 | OC271 | 36 | MLH1 | NM_000249.3 | c.2052T>G | p.(Tyr684*) | ovary | BC + CRC | endometrioid | II | Yes | NA | NA |
| 29 | OC490 | 36 | MSH2 | NM_000251.2 | c.2362dup | p.(Thr788Asnfs*11) | ovary | CRC + PC + UC | high-grade serous | I | No | 0 | 0 |
| 30 | OC216 | 55 | MSH6 | NM_000179.2 | c.3172+1G>T | ovary | UC | high-grade serous | I | No | NA | NA | |
| 31 | OC096 | 44 | MSH6 | NM_000179.2 | c.2150_2153del | p.(Val717Alafs*18) | ovary | UC + CC | endometrioid | III | No | 0 | 1 |
| 32 | OC313 | 61 | PMS2 | NM_000535.5 | c.2276-1G>C | ovary | none | high-grade serous | III | No | NA | NA | |
| 33 | OC662 | 69 | PMS2 | NM_000535.5 | c.51_55del | p.(Ile18Serfs*34) | peritoneal | none | high-grade serous | III | No | 0 | 0 |
| 34 | OC174 | 44 | RAD51D | NM_002878.3 | c.270_271dup | p.(Lys91Ilefs*13) | ovary | none | clear cell | I | No | 0 | 0 |
| 35 | OC667 | 44 | RAD51D | NM_002878.3 | c.270_271dup | p.(Lys91Ilefs*13) | peritoneal | none | high-grade serous | III | No | 0 | 0 |
| 36 | OC670 | 64 | RAD51D | NM_002878.3 | c.270_271dup | p.(Lys91Ilefs*13) | fallopian tube | none | high-grade serous | III | No | 1 | 0 |
| 37 | OC678 | 48 | ATM | NM_000051.3 | c.7091del | p.(Ala2364Glufs*2) | ovary | none | high-grade serous | I | No | 0 | 0 |
| 38 | OC343 | 51 | ATM | NM_000051.3 | c.1258del | p.(Ile420Tyrfs*17) | ovary | none | mucinous | I | No | 0 | 0 |
| 39 | OC646 | 73 | FANCC | NM_000136.2 | c.406C>T | p.(Gln136*) | ovary | none | high-grade serous | IV | No | NA | NA |
| 40 | OC367 | 45 | GABRA6 | NM_000811 | c.241del | p.(Val81Phefs*12) | ovary | none | others | III | No | 0 | 0 |
| 41 | OC058 | 63 | MRE11A | NM_005591.3 | c.659+1G>A | ovary | none | clear cell | III | No | NA | NA |
aBC, breast cancer; CC, cervical cancer; CRC, colorectal cancer; PC, pancreatic cancer; UC, uterine cancer.
bFamily history of cancer, including first- or second-degree relatives. NA, not available.