Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma

Table 2 BRCA mutations detected in blood, FFPE tumor samples and cytological samples of ovarian cancer patients

Sample No.	Gene	Mutation	Mutation detected in blood by TSCancer^a	Mutation detected in FFPE tumor sample by TSCA^a	Mutation detected in cytological sample by TSCancer^a	Mutation detected in cytological sample by TSCA^a	CS sample type^b	Germline/somatic mutation
1	BRCA1	c.844_850dupTCATTAC p.(Gln284Leufs*5)	YES	YES	YES	YES	AS	germline
2	BRCA1	c.116G > A p.(Cys39Tyr)	YES	YES	YES	YES	AS	germline
3	BRCA1	del ex 4–9 c.(134 + 1_135–1)_(670 + 1_671–1)del p.	YES	YES	YES	YES	AS	germline
4	BRCA1	c.1543G > T p.(Glu515*)	NO	YES	YES	YES	ELN	somatic
5	BRCA1	c.3018_3021delTTCA p.(His1006Glnfs*17)	YES	YES	YES	YES	PE	germline
6	BRCA1	c.1687C > T p.(Gln563*)	YES	YES	YES	YES	AS	germline
7	BRCA1	c.850C > T p.(Gln284*)	YES	YES	YES	YES	AS	germline
8	BRCA1	del ex4–9 c.(134 + 1_135–1)_(670 + 1_671–1)del p.?	YES	YES	YES	YES	ELN	germline
9	BRCA2	c.4139_4140dupTT p.(Lys1381Leufs*8)	YES	YES	YES	YES	AS	germline
10	BRCA1	c.843_846delCTCA p.(Ser282Tyrfs*15)	YES	YES	YES	YES	ELN	germline
11	BRCA1	c.843_846delCTCA p.(Ser282Tyrfs*15)	YES	YES	YES	YES	ELN	germline
12	BRCA2	del ex22–27 c.(8754 + 1_8755–1)_(*1_?)del p.?	NO	YES	YES	YES	ELN	somatic
13	BRCA1	c.843_846delCTCA p.(Ser282Tyrfs*15)	YES	YES	YES	YES	PE	germline
14	BRCA1	c.1687C > T p.(Gln563*)	YES	YES	YES	YES	AS	germline
15	BRCA1	c.3436_3439delTGTT p.(Cys1146Leufs*8)	YES	YES	YES	YES	AS	germline
16	BRCA1	c.844_850dupTCATTAC p.(Gln284Leufs*5)	YES	YES	YES	YES	AS	germline
17	BRCA1	c.4065_4068delTCAA p.(Asn1355Lysfs*10)	YES	YES	YES	YES	AS	germline

CS cytological sample, ^aMethod used for NGS sequencing; ^bAS ascitic fluid, ELN enlarged lymph node, PE pleural effusion, TSCancer TrueSight Cancer panel, TSCA TruSeq Custom Amplicon Kit

ISSN: 1471-2407