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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