Table 1.
PATIENT | Age | Sample Time Points | Study Length (Days) | Neo-adyuvance | FIGO | PCI | R Surgery | Relapse | Origin | Exitus | Mutation(s) Identified by NGS | Mutation-Specific ctDNA Detected by dPCR (Líquid Biopsy) | Verified in Tumor by dPCR (Tumor Tissue) | Further NGS-Identified Pathogenic Mutations | Further NGS-Identified Mutations Classified as VUS (Variant of Uncertain Significance) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 61 | 5 | 538 | YES | IIIC | 30 | R1 | YES | Bulgarian | YES | TP53 C135Sfs*35 | ||||
2 | 42 | 5 | 391 | YES | IVA | 18 | R1 | YES | Spanish | YES | BRCA2 G2793V | ||||
3 | 61 | 6 | 882 | NO | IIIC2 | 2 | R0 | NO | Spanish | NO | |||||
4 | 72 | 5 | 401 | YES | IVB | 11 | YES | YES | TP53 P27L | ||||||
5 | 70 | 4 | 400 | YES | IIIA2 | 7 | R0 | YES | Spanish | NO | TP53 R175H | + | + | BRCA1 T688* | |
6 | 80 | 4 | 384 | YES | IIB | 23 | R0 | YES | Spanish | NO | |||||
7 | 70 | 3 | 301 | NO | IVB | 9 | R1 | NO | Spanish | NO | TP53 R175H BRCA1 E1210R |
+ |
+ |
||
8 | 60 | 6 | 997 | NO | IVB | 18 | R0 | YES | Spanish | NO | TP53 p.? | + | + | ||
9 | 63 | 4 | 357 | YES | IIIC | 12 | YES | YES | TP53 A86Hfs*37 BRCA2 K3326* | ||||||
10 | 53 | 9 | 933 | YES | IIIA2 | 16 | R0 | NO | Moroccan | NO | TP53 G245D | o | + | BRCA1 G1770V | |
11 | 51 | 7 | 812 | YES | IIIC | 21 | R0 | YES | Romanian | NO | BRCA1 E272* TP53 R248Q |
+ + |
+ + |
||
12 | 75 | 7 | 835 | YES | NA | 35 | R0 | YES | Spanish | NO | |||||
13 | 75 | 4 | 356 | NO | IIIC | 13 | R0 | YES | Spanish | NO | TP53 c.911_919+7delCTAAGCGAGGTAAGCA | ||||
14 | 51 | 4 | 532 | YES | IIIA | 22 | R0 | NO | Chinese | NO | TP53 Y220C | + | + | BRCA2 S611Yfs*5 | BRCA1 K654R |
15 | 53 | 4 | 365 | NO | IC | 10 | R0 | NO | Spanish | NO | BRCA1 Y655* C994* | ||||
16 | 74 | 7 | 314 | NO | IIIA | 17 | R0 | NO | Spanish | NO | TP53 R249S | + | + | TP53 R254S | |
17 | 64 | 5 | 288 | NO | IIIB | 7 | R0 | NO | Spanish | NO | |||||
18 | 59 | 5 | 300 | NO | IIIc | 12 | R0 | NO | Spanish | NO | TP53 C275F | ||||
19 | 63 | 5 | 280 | YES | IVa | 19 | R1 | YES | Spanish | NO | BRCA2c.8332-1G>A = p.? | BRCA2 G2270R E2832K S2984L BRCA1 E438K S186F | |||
20 | 72 | 4 | 360 | NO | IVa | 15 | R1 | NO | Spanish | NO | BRCA1 S1428* | ||||
21 | 70 | 5 | 420 | YES | IIIc | 20 | R0 | NO | Romanian | NO | TP53 Y236* | BRCA2 D1441N BRCA1 P1010S | |||
22 | 68 | 5 | 400 | YES | IIIc | 18 | R0 | YES | Moroccan | NO | TP53 H193R | BRCA2 A2851L |
FIGO stage: International Federatio of Gynaecology and Obstetrics staging system. PCI: Peritoneal carcinomatosis index. Cytoreductive Surgery: R0 No residual tumour, R1: Residual tumour less than 1 cm. + means Yes; * is only a variation of the gene.