TABLE 3.
(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.
Germline genetic testing included BRACAnalysis and multigene panel testing, myRisk.
Variant of unknown significance.
This mutation was found as a variant of unknown of significance in the F1CDx report.