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

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

Sample No. Gene Mutation Mutation detected in blood by TSCancera Mutation detected in FFPE tumor sample by TSCAa Mutation detected in cytological sample by TSCancera Mutation detected in cytological sample by TSCAa CS sample typeb 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
  1. 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