Table 2. Diagnostic devices for mammary transformation.
| Test | Description | Purpose | Target population |
|---|---|---|---|
| DCISionRT | Lesion size, patient age, IHC:HER2, PR, Ki67, COX2,
p16/INK4A, FOXA1, SIAH2 |
Calculate 10-year local recurrence risk | DCIS, decision on radiation therapy |
| Oncotype DX Test | Expression levels of 12 genes | Recurrence/progression risk | DCIS |
| Oncotype DX Test | Expression levels of 12 genes | Benefit from chemotherapy after surgery | DCIS |
| Oncotype DX Test | Expression levels of 21 genes | Recurrence risk | Early-stage (1–2) ER positive breast cancer, LN negative |
| Oncotype DX Test | Expression levels of 21 genes | Benefit from chemotherapy after surgery | Early-stage (1–2) ER positive breast cancer, LN negative |
| MammaPrint | Amsterdam 70-gene breast cancer gene signature | Benefit from chemotherapy | Early stage (1–2) breast cancer patients, tumor <5 cm |
| MammaPrint | Amsterdam 70-gene breast cancer gene signature | Metastasis risk (high/low) | Early stage (1–2) breast cancer patients, tumor <5 cm |
| Prosigna | Gene expression signature for 58 genes | Treatment decisions based on the risk of
distant recurrence |
Early-stage (1–2), hormone-receptor-positive breast cancer
(post-surgery/hormone) |
| Prosigna | Gene expression signature for 58 genes | Treatment decisions based on the risk of
distant recurrence |
Stage 2, <4 LN positive, hormone-receptor-positive breast cancer
(post-surgery/hormone) |
| EndoPredict | Lesion size, LN involvement, UBE2C, BIRC5, DHCR7,
STC2, AZGP1, IL6ST, RBBP8, MGP, 4 control genes |
Risk for distant metastases,
chemotherapy decision |
Newly diagnosed, early-stage (1–2), ER positive,
HER2 negative breast cancer |
| Mammostrat | P53, HTF9C, CEACAM5, NDRG1, SLC7A5 (IHC) | Risk of metastasis and recurrence | Newly diagnosed, early stage breast cancer |
| BRCANext | 18 genes associated with hereditary breast cancer | Consideration of prophylactic mastectomy | Suspicion of hereditary predisposition |
| LobSig | 194-gene set | Outcome prediction | Invasive lobular carcinoma |
| GGI/MapQuantDx | 97 genes involved in cell cycle regulation or proliferation | Prognostic marker and predictor of outcome | Tamoxifen-treated patients |
| Blueprint | 80-gene signature | Breast cancer subtyping | Breast cancer |
| Breast Cancer Index Test | Molecular Grade Index, Genes: BUB1B, CENPA, NEK2,
RACGAP1, RRM2, HoxB13, IL17BR |
5–10 Year recurrence risk, decision on extending
hormone therapy |
LN negative, hormone-receptor-positive,
HER2 negative breast cancer, post-hormone treatment |
| Guardant 360 | Liquid biopsy, ALK, ATM, BRAF, BRAF V600E, BRAF V600K,
BRCA1, BRCA2, CDK12, EGFR, ERBB2 (HER2), ESR1, FGFR2, FGFR3, IDH1, KIT, KRAS, MET, MSI, NRAS, NTRK, PDGFRA, PIK3CA, RET, ROS1 |
Treatment decisions | Advanced stage |
Currently available tests are described for their basis, their purpose, and the target population they serve.