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Table 2 BRCA mutations detected in blood, FFPE tumor samples and cytological samples of ovarian cancer patients
| Sample No. | Gene | Mutation | Mutation detected in blood by TSCancera | Mutation detected in FFPE tumor sample by TSCAa | Mutation detected in cytological sample by TSCancera | Mutation detected in cytological sample by TSCAa | CS sample typeb | Germline/somatic mutation |
|---|---|---|---|---|---|---|---|---|
| 1 | BRCA1 | c.844_850dupTCATTAC p.(Gln284Leufs*5) | YES | YES | YES | YES | AS | germline |
| 2 | BRCA1 | c.116G > A p.(Cys39Tyr) | YES | YES | YES | YES | AS | germline |
| 3 | BRCA1 | del ex 4–9 c.(134 + 1_135–1)_(670 + 1_671–1)del p. | YES | YES | YES | YES | AS | germline |
| 4 | BRCA1 | c.1543G > T p.(Glu515*) | NO | YES | YES | YES | ELN | somatic |
| 5 | BRCA1 | c.3018_3021delTTCA p.(His1006Glnfs*17) | YES | YES | YES | YES | PE | germline |
| 6 | BRCA1 | c.1687C > T p.(Gln563*) | YES | YES | YES | YES | AS | germline |
| 7 | BRCA1 | c.850C > T p.(Gln284*) | YES | YES | YES | YES | AS | germline |
| 8 | BRCA1 | del ex4–9 c.(134 + 1_135–1)_(670 + 1_671–1)del p.? | YES | YES | YES | YES | ELN | germline |
| 9 | BRCA2 | c.4139_4140dupTT p.(Lys1381Leufs*8) | YES | YES | YES | YES | AS | germline |
| 10 | BRCA1 | c.843_846delCTCA p.(Ser282Tyrfs*15) | YES | YES | YES | YES | ELN | germline |
| 11 | BRCA1 | c.843_846delCTCA p.(Ser282Tyrfs*15) | YES | YES | YES | YES | ELN | germline |
| 12 | BRCA2 | del ex22–27 c.(8754 + 1_8755–1)_(*1_?)del p.? | NO | YES | YES | YES | ELN | somatic |
| 13 | BRCA1 | c.843_846delCTCA p.(Ser282Tyrfs*15) | YES | YES | YES | YES | PE | germline |
| 14 | BRCA1 | c.1687C > T p.(Gln563*) | YES | YES | YES | YES | AS | germline |
| 15 | BRCA1 | c.3436_3439delTGTT p.(Cys1146Leufs*8) | YES | YES | YES | YES | AS | germline |
| 16 | BRCA1 | c.844_850dupTCATTAC p.(Gln284Leufs*5) | YES | YES | YES | YES | AS | germline |
| 17 | BRCA1 | c.4065_4068delTCAA p.(Asn1355Lysfs*10) | YES | YES | YES | YES | AS | germline |
