Table 2.
Pathogenic variants identified.
| Patient | Histological type | Gene | HGVS coding | HGVS protein | Tumor | Blood | RD tumor | VAF tumor % | MS |
|---|---|---|---|---|---|---|---|---|---|
| 1 | HGSOC | BRCA1 | c.1192_1193del | p.(Ser398ThrfsTer2) | Positive | Negative | 5,885 | 52 | 15 |
| 2 | Endometrioid | BRCA1 | c.1459_1463delinsTAT | p.(Val487TyrfsTer2) | Positive | Negative | 13,929 | 19 | 12 |
| 3 | HGSOC | BRCA1 | c.1058G>A | p.(Trp353Ter) | Positive | Positive | 5,170 | 55 | 15 |
| 4 | HGSOC | BRCA1 | c.2037delinsCC | p.(Lys679AsnfsTer4) | Positive | Positive | 12,302 | 63 | 28 |
| 5 | HGSOC | BRCA1 | c.2037delinsCC | p.(Lys679AsnfsTer4) | Positive | Positive | 6,419 | 77 | 18 |
| 6 | HGSOC | BRCA1 | c.3331_3334del | p.(Gln1111AsnfsTer5) | Positive | Positive | 522 | 87 | 47 |
| 7 | HGSOC | BRCA1 | c.3331_3334del | p.(Gln1111AsnfsTer5) | Positive | Positive | 6,015 | 92 | 18 |
| 8 | HGSOC | BRCA1 | c.3331_3334del | p.(Gln1111AsnfsTer5) | Positive | Positive | 6,118 | 86 | 28 |
| 9 | HGSOC | BRCA1 | c.3331_3334del | p.(Gln1111AsnfsTer5) | Positive | Positive | 7,995 | 87 | 17 |
| 10 | HGSOC | BRCA1 | c.3331_3334del | p.(Gln1111AsnfsTer5) | Positive | Positive | 3,544 | 84 | 31 |
| 11 | HGSOC | BRCA1 | c.3331_3334del | p.(Gln1111AsnfsTer5) | Positive | Positive | 4,700 | 71 | 19 |
| 12 | Carcinosarcoma | BRCA1 | c.211A>G | p.(Arg71Gly) | Positive | Positive | 2,048 | 84 | 22 |
| 13 | Carcinosarcoma | BRCA1 | c.1016dup | p.(Val340GlyfsTer6) | Positive | Negative | 3,887 | 57 | 15 |
| 14 | HGSOC | BRCA1 | c.3817C>T | p.(Gln1273Ter) | Positive | Positive | 5,687 | 91 | 41 |
| 15 | HGSOC | BRCA1 | c.4411_4412del | p.(Gly1471ProfsTer4) | Positive | Negative | 8,921 | 25 | 15 |
| 15 | HGSOC | BRCA1 | c.4485-2A>C | Positive | Negative | 3,610 | 6 | ||
| 25 | HGSOC | BRCA1 | c.116G>T | p.(Cys39Phe) | Positive | Negative | 30,150 | 24 | 18 |
| 16 | HGSOC | BRCA2 | c.8488-1G>A | Positive | Positive | 2,838 | 49 | 23 | |
| 17 | HGSOC | BRCA2 | c.5073dup | p.(Trp1692MetfsTer3) | Positive | Positive | 6,900 | 78 | 23 |
| 18 | HGSOC | BRCA2 | c.4964dup | p.(Tyr1655Ter) | Positive | Positive | 3,592 | 80 | 12 |
| 19 | HGSOC | BRCA2 | c.5073dup | p.(Trp1692MetfsTer3) | Positive | Positive | 9,183 | 78 | 19 |
| 20 | HGSOC | BRCA2 | c.4964dup | p.(Tyr1655Ter) | Positive | Positive | 2,708 | 70 | 20 |
| 21 | Endometrioid | BRCA2 | c.5436del | p.(Glu1812AspfsTer3) | Positive | Negative | 5,638 | 69 | 19 |
| 22 | HGSOC | BRCA2 | c.5950_5961delinsTGCT | p.(Lys1984CysfsTer16) | Positive | Negative | 21,046 | 65 | 15 |
| 23 | HGSOC | BRCA2 | c.9379_9400del | p.(Trp3127AlafsTer29) | Positive | Negative | 1,357 | 6 | 18 |
| 24 | HGSOC | BRCA2 | c.156_157insAlu | Negative | Positive | 21 | |||
| 34 | HGSOC | BRCA2 | c.7975A>G | p.(Arg2659Gly) | Positive | Positive | 873 | 56 | 18 |
HGSOC, high-grade serous ovarian cancer; RD, read depth; VAF, variant allele frequency; MS, Manchester score.