Samples | 1 | 2 | 3 | 4 | 5 | 6 |
---|---|---|---|---|---|---|
Tumor histology | High-grade serous ovarian carcinoma | High-grade serous ovarian carcinoma | High-grade serous ovarian carcinoma | High-grade serous ovarian carcinoma | High-grade serous ovarian carcinoma | High-grade serous ovarian carcinoma |
Tumor type | Metastatic | Metastatic | Metastatic | Primary | Metastatic | Metastatic |
Tumor content (%) | 40 | 50 | 30 | 80 | 30 | 70 |
Tumor fragment type | Surgical sample | Biopsy | Biopsy | Surgical sample | Biopsy | Biopsy |
Gene | BRCA1 | BRCA1 | BRCA1 | BRCA1 | BRCA1 | BRCA2 |
Exon | 11 | 15 | 16 | 20 | 23 | 11 |
Allele frequency (%) | 8 | 23.5 | 19.9 | 75.7 | 75.9 | 61.7 |
Nucleotide change | c.872T>G | c.4756G>T | c.4810C>T | c.5194-2A>G | c.5434C>G | c.5645C>A |
AA change | p.Leu291X | p.Glu1586X | p.Gln1604X | p.? | p.Pro1812Ala | p.Ser1882X |
Somatic or germline | Somatic | Somatic | Somatic | Somatic | Germline | Germline |
Patients’ outcome following PARPi administration | Maintenance treatment by PARPi (olaparb) since 7 months | Progression after 6 months on PARPi (niraparib) | Maintenance treatment by PARPi (olaparb) since 10 months | Progression after 3 months on PARPi (olaparib) | Maintenance treatment by PARPi (olaparb) since 7 months | Maintenance treatment by PARPi (olaparb) since 8 months |
Evaluated functional score | − 2.298 | − 2.319 | − 1.769 | − 1.123 | − 2.136 | − 2.104 |
Functional consequence | Functionally abnormal | Functionally abnormal | Functionally abnormal | Intermediate | Functionally abnormal | Functionally abnormal |