Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes

Table 2 Clinical features, response to platinum retreatment and molecular findings of 15 ovarian cancer patients^a

ID	Histology	Response	HRD	TP53	BRCA1	BRCA2	Other Mutations	Family History	CCNE CN	RB1 CN
1	HGSC	CR	No	c.782 + 1G > A	WT	WT	WT	Yes	2.3	1.9
2	HGSC	PR	No	WT	WT	WT	WT	No	2.9	1.8
3	HGSC	SD	No	c.672 + 1G > T	WT	WT	XRCC2 c.643C > T APC c136G > T	Yes	4.0	1.9
4	HGSC	SD	Yes	nd	nd	nd	nd	No	2.1	2.0
5	HGSC	PR	Yes	c.734G > A	WT	WT	WT	No	1.9	1.1
6	HGSC	CR	Yes	WT	c.415C > A	WT	MUTYH c.991G > T	No	1.5	1.5
7	UC	PR	Yes	c.245delC	c.5044G > T	c.8350C > T	WT	Yes	2.0	3.0
8	UC	DP	No	WT	c.3931_3934delAACA	WT	WT	Yes	2.3	1.9
9	HGSC	DP	Yes	nd	nd	nd	nd	Yes	2.6	1.1
10	HGSC	PR	Yes	c.536A > G c.4G > T	WT	WT	POLE c.4111C > T	No	1.5	1.2
11	HGSC	PR	Yes	c.920-2A > T	WT	WT	APC c.5758C > T c.6610C > T	Yes	2.0	1.5
12	HGSC	DP	No	c.718delA	WT	WT	XRCC2 c.110C > A	No	3.5	3.2
13	HGSC	SD	No	nd	nd	nd	nd	No	1.7	1.8
14	HGSC	DP	Yes	nd	nd	nd	nd	No	2.4	2.0
15	HGE	DP	Yes	c.524G > A	c.5096G > A	WT	WT	No	2.2	1.1

^aTarget-next generation sequencing was performed in 11 of 15 cases. HRD homologous recombination deficiency, CN copy number, HGSC high grade serous carcinoma, UC undifferentiated carcinoma, HGE high grade endometrioid carcinoma, CR complete response, PR partial response, SD stable disease, DP disease progression, nd not determined, WT wild type alleles. Copy number gain was defined as CN > 2.0; copy number loss was defined as CN < 2.0. HRD was considered with CS score ≥ 42

ISSN: 1471-2407