Knowing a patient’s biomarker profile can inform treatment decisions and open up
new targeted therapy options1–3
High-quality next-generation sequencing (NGS) helps you see beyond the tumour origin to exactly which mutations are driving that cancer.4
From primarily looking at the disease origin in the body
To understanding what drives a disease at the molecular level
From 'one-size-fits-all' medicines
To treatment decisions fitted to a patient's unique disease profile
Targeted therapies are being studied to advance treatment options for patients with actionable biomarkers7,8
- Biomarkers such as ALK, BRAF, EGFR, HER2, KIT and ROS1 have changed the course of therapy in multiple cancer types9–11
- NTRK gene fusions are emerging as actionable biomarkers and oncogenic drivers7,8,12
Anaplastic lymphoma kinase (ALK) gene, found in approximately 5% of NSCLC tumours13
B-Raf proto-oncogene (BRAF) is found in 1.5–3.5% of NSCLC tumours14 and between 8–12% of metastatic colorectal cancer.15 The frequency varies widely in human cancers, from more than 80% in melanomas to as little as 0–18% in other tumours15
Epidermal growth factor receptor (EGFR) gene – in NSCLC of any histology, pooled frequencies of EGFR mutations ranged from 8.4–35.9% for ever/heavy smokers and from 37.6–62.5% for never/light smokers16
Human epidermal growth factor receptor 2 (HER2) gene, found in 2% of lung adenocarcinomas17 and oncogenic HER2 is overexpressed in 15–20% of primary breast cancers18
c-ros oncogene 1 (ROS1) gene rearrangements are a therapeutic target in NSCLC, with gene fusions occurring in 1–2% of patients.20,21 It is also a useful biomarker for several cancers22,23
NTRK (neurotrophic tropomyosin receptor kinase) is emerging as an actionable biomarker and oncogenic driver7,8,12
NTRK fusions occur in 0.3% of patients across a wide range of cancer types,24 including: papillary thyroid, non-small cell lung, mammary analogue secretory carcinoma, breast, pancreatic, colorectal and sarcoma (including gastrointestinal stromal tumour)7,8,12
RET gene alterations can occur in various tumours and are a therapeutic target in up to 2% of patients in NSCLC, 10-20% of patients in PTC and 65%- 95% of patients with sporadic- familial MTC1-5
Mutations in KRAS oncogene are one of the most common genomic alterations in solid tumors. In NSCLC 25-20% of cases have mutations in KRAS1
- NGS using targeted gene panels (~50 genes) can identify most actionable mutations and fusions
- Comprehensive Genomic Profiling (CGP) (>300 genes) also uses NGS to analyze the cancer genome and offers broad coverage of clinically relevant alterations, potentially expanding patients' treatment options4,26–30
- NTRK, ROS1, ALK gene fusions as well as RET gene alterations can be accurately detected with Comprehensive Genomic Profiling (CGP)4,26–30
Precision medicine expands treatment options and approaches for patients, including traditional cancer therapies and emerging targeted therapies, with the aim of achieving the best possible outcome for the patient5
CNS, central nervous system; NGS, next-generation sequencing; NSCLC, non-small cell lung cancer.
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