Browse tumour types and biomarkers
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| Biomarker | Prevalence | Tests / detection method | Tumour types |
|---|---|---|---|
| ALK gene rearrangements occur in approximately 3%-7% of NSCLC, more common in younger patients and never-smokers.[fda] | FISH, IHC, NGS (fusion calling) | non-small cell lung cancer | |
| BRAF V600E mutations occur in approximately 50% of cutaneous melanomas, 8%-15% of colorectal cancers, and 1%-3% of NSCLC.[fda] | PCR-based mutation assays, NGS | colorectal cancer, melanoma, non-small cell lung cancer | |
| Pathogenic germline BRCA1 variants are found in approximately 5% of unselected breast cancers and up to 15% of ovarian cancers.[fda] | germline genetic testing, somatic NGS | breast cancer, ovarian cancer, pancreatic cancer, prostate cancer | |
| Pathogenic germline BRCA2 variants are found in approximately 5% of unselected breast cancers and are also associated with elevated risk of ovarian, pancreatic, and prostate cancer.[fda] | germline genetic testing, somatic NGS | breast cancer, ovarian cancer, pancreatic cancer, prostate cancer | |
| Activating EGFR mutations occur in approximately 10%-15% of NSCLC in Western populations and approximately 30%-40% in Asian and never-smoker populations.[fda] | NGS, PCR-based mutation panels | non-small cell lung cancer | |
| HER2 is overexpressed or amplified in approximately 15%-20% of breast cancers and approximately 15%-20% of gastric/gastroesophageal junction adenocarcinomas.[fda] | IHC, ISH/FISH, NGS (amplification calling) | breast cancer, gastric cancer, gastroesophageal junction adenocarcinoma | |
| KRAS mutations occur in approximately 25% of NSCLC and up to 45% of colorectal cancers; KRAS G12C specifically accounts for approximately 13% of NSCLC and 3%-4% of colorectal cancer cases.[fda] | NGS | colorectal cancer, non-small cell lung cancer, pancreatic cancer | |
| MET exon 14 skipping alterations occur in approximately 3%-4% of NSCLC, more common in older patients and those with sarcomatoid histology.[fda] | NGS (RNA-based assays preferred for splice variants) | non-small cell lung cancer | |
| PD-L1 expression thresholds and prevalence vary substantially by tumor type and assay; high PD-L1 expression (TPS >= 50%) is seen in approximately 25%-30% of NSCLC by validated companion diagnostic assays.[fda] | IHC | gastric cancer, non-small cell lung cancer, triple-negative breast cancer, urothelial carcinoma | |
| PIK3CA hotspot mutations are found in approximately 40% of hormone receptor-positive, HER2-negative advanced breast cancers.[fda] | NGS, PCR-based mutation assays | breast cancer |