Table 1.
Genomic Assays for Breast Cancer
| Name | Company | Type | Tissue | Lab | Target population | Outcomes predicted |
|---|---|---|---|---|---|---|
| Breast Cancer Index | bioTheranostics, Inc. | 2-gene HI/5-gene MGI RT-PCR | FFPE | Reference | ER+, LN− | Risk of distant recurrence 5–10y post-dx Risk of benefit from 10y adj endocrine rx |
| BreastOncPx | LabCorp | 14-gene RT-PCR | FFPE | Reference | ER+, LN− | Metastasis Score (MS): Risk of distant recurrence 10y post-dx (low, moderate, high) |
| BreastPRS | Signal Genetics | 200-gene microarray | FF, FFPE | Reference | ER+, LN− w/intermediate Oncotype DX RS | Reclassification into high or low risk of distant recurrence 10y post-dx |
| EndoPredict | Sividon Diagnostics | 8-gene RT-PCR | FFPE | Local | ER+, HER2− | Risk of distant recurrence 10y post-dx (low or high) |
| Genomic Grade Index | MapQuant Dx | 97-gene microarray OR 4-gene RT-PCR | FF, FFPE | Reference | ER− or ER+, Gr2 | ER+: Reclassification → low or high risk ER−/ER+: High GGI assoc w/↑ chemosensitivity & ↓ relapse-free survival |
| IHC4 (conventional) | N/A | 4-biomarker IHC | FFPE | Local | ER+ | Risk of distant recurrence 10y post-dx |
| IHC4 (NexCourse) | Genoptix | 4-biomarker AQUA | FFPE | Reference | ER+ | 4 categories estimating risk of distant recurrence 10y post-dx (low, low-mid, mid, and high) |
| MammaPrint | Agendia | 70-gene microarray | FF, FFPE | Reference | ER− or ER+, LN− or LN+ | Risk of distant recurrence 10y post-dx (low: <0.4, high: ≥0.4) |
| MammaType | BioNTech AG | 4-gene RT-PCR | FFPE | Local | ER− or ER+, LN− | Improved intrinsic subtyping (esp b/w luminal A and luminal B) |
| Mammostrat | Clarient | 5-biomarker IHC | FFPE | Local | ER+, LN−, receiving endocrine rx | Risk of relapse if chemotherapy omitted (low, moderate, high) |
| NPI+ | N/A | 4-biomarker IHC; Multivariate model | FFPE | Local | All | 7 biological classes (i.e., refined subtypes) stratified into Prognostic Groups (PGs) |
| Oncotype DX | Genomic Health | 21-gene RT-PCR | FFPE | Reference | ER+, LN−, HER2− | Recurrence Score (RS): Risk of distant recurrence 10y post-dx; Low:<18, intermediate: 18–30, high: >30 |
| Prosigna (PAM50) | NanoString Technologies | 50-gene microarray | FF, FFPE | Local | ER+, LN− or LN+, postmenopausal, receiving endocrine rx | Intrinsic subtyping Risk of Recurrence (ROR) score (low, intermediate, high) |
dx: diagnosis, FF: Fresh Frozen, FFPE: formalin fixed paraffin embedded, HER2−: HER2/neu non-amplified, HER2+: HER2/neu amplified, IHC: immunohistochemistry, RT-PCR: reverse transcriptase polymerase chain reaction, rx: treatment, LN−: lymph node negative, LN+: lymph node positive