RNA sequencing & expression profiling
Measuring which genes a tumour is actively using, which reveals its subtype and finds gene fusions.
Bulk RNA-seq detects fusions (NTRK, RET, NRG1), expression subtypes (PAM50, TNBC subtypes, consensus molecular subtypes in CRC), and immune signatures. Commercial prognostic assays (Oncotype DX, MammaPrint, Prosigna) are expression-based and guide chemotherapy de-escalation in HR+ breast cancer.
How it works
Reverse transcription of RNA to cDNA and sequencing; counts per gene quantify expression.
- Fusion detection
- Functional state, not just genotype
- RNA degrades in FFPE
- Bulk averages over cell types
A 22-gene test on the biopsy or surgical specimen that predicts spread and death, used to decide on surveillance or adding hormone therapy.
A 70-gene test that tells whether an early breast cancer is genomically low or high risk, used to decide who can skip chemotherapy.
A 21-gene test that tells most women with early hormone-positive breast cancer whether they can safely skip chemotherapy.
Latest papers
topQuery for this technology: (TITLE:"RNA sequencing" OR ABSTRACT:"RNA sequencing" OR TITLE:"transcriptomic profiling" OR ABSTRACT:"transcriptomic profiling" OR TITLE:"gene expression signature" OR ABSTRACT:"gene expression signature") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about RNA sequencing & expression profiling, not a curated reading list.