Table 1.
Pathogenic Mutations in the BRCA1 Gene Detected in 8 Unrelated Patients
| Sample ID | Exon | Nucleotide change | Amino acid change | Read depth (X) | Variant frequency (%) |
Germline (G)/ Somatic (S) | Histology | Age (years) |
|---|---|---|---|---|---|---|---|---|
| HGSOC12 | 22 | c.5335delC | p.Gln1779AsnfsTer14 | 438 | 38 | G | Serous carcinoma, grade 3 | 48 |
| HGSOC26 | 20 | c.5251C>T | p.Arg1751Ter | 1773 | 63 | G | Serous carcinoma, grade 2 | 48 |
| HGSOC37 | 20 | c.5251C>T | p.Arg1751Ter | 1881 | 90 | G | Serous carcinoma, grade 2 | 51 |
| HGSOC45 | 11 | c.1621C>T | p.Gln541Ter | 1997 | 88 | G | Serous carcinoma, grade 2 | 51 |
| OCY16T | 11 | c.1360_1361delAG | p.Ser454Ter | 1990 | 60 | S | Serous carcinoma, grade 3 | 54 |
| OCY23T | 20 | c.5251C>T | p.Arg1751Ter | 1525 | 70 | G | Endometrioid carcinoma, grade 3 |
50 |
| OCY33T | 11 | c.1621C>T | p.Gln541Ter | 1365 | 93 | G | Serous carcinoma, grade 2 | 53 |
| OCY41T | 20 | c.5251C>T | p.Arg1751Ter | 993 | 51 | G | Serous carcinoma, grade 1 | 49 |