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Table 2 Baseline tumor characteristics of patients who were treated with PARP inhibitors

From: Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes

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