Skip to main content
. 2020 Dec 4;10(2):529–539. doi: 10.1002/cam4.3619

TABLE 3.

Comparison of germline and somatic mutations in BRCA1/2. A, Summary; (B) detailed results of cases

(A) Germline genetic testing a F1CDx Total
Oncogenic variant Oncogenic variant Not detected
Positive 7 1 b 8
Negative 3 24 27
Not examined 7 67 74
Total 17 92 109
(B) Sample no Subtype Germline genetic testing#1 F1CDx
BRCA1 BRCA2 BRCA1 BRCA2
002 TNBC G1738R G1738R
007 TNBC 2050delG C644fs*7
026 TNBC 1135insA V340fs*6
028 TNBC K893fs*106 K893fs*106
097 TNBC C64R C64R c
099 TNBC Positive R1085*
091 HER2 81‐1G>A splice site 81‐1G>A
201 Luminal B S547X S547*
004 TNBC G275D
035 TNBC E1011*
088 Luminal B E2474*
029 TNBC NE NE S1374fs*1
030 TNBC NE NE truncation exon 10
060 TNBC NE NE I1159fs*50
040 Luminal B NE NE E111fs*3
055 Luminal B NE NE R2318*
216 Luminal B NE NE R2318*
074 Luminal‐HER2 NE NE truncation intron 7

Abbreviations: F1CDx, FoundationOne® CDx; HER2, human epidermal receptor type 2; NE, not examined; TNBC, triple‐negative breast cancer.

a

Germline genetic testing included BRACAnalysis and multigene panel testing, myRisk.

b

Variant of unknown significance.

c

This mutation was found as a variant of unknown of significance in the F1CDx report.