Find out how FoundationOne can detect alterations in 315 cancer-related genes and 28 select introns.1
Biomarker detection

FoundationOne maximises the detection of biomarkers associated with potentially effective therapies

FoundationOne can help you to maximise therapy options by detecting genomic alterations present in 315 genes and 28 select introns that are known to be associated with cancer, across 4 types of alteration class.1 FoundationOne can additionally detect microsatellite instability (MSI) and tumour mutational burden (TMB) biomarkers that are increasingly associated with the effectiveness of immunotherapies.2,3




FoundationOne can detect 4 classes of genomic alterations plus biomarkers associated with response to immunotherapy2–4

What genes are tested using FoundationOne?What genes are tested using FoundationOne?
Genes tested by FoundationOne

What genes are tested using FoundationOne?

Genes tested by FoundationOne
Current Gene List
  • A-B
  • C-D
  • E-F
  • G-J
  • N-P
  • K-M
  • Q-S
  • T-Z
Select Rearrangements
  • A-C
  • D-F
  • G-I
  • J-L
  • M-O
  • P-R
  • S-U
  • V-Z
Greater accuracy

FoundationOne is a leader in clinical genomic profiling, detecting more alterations than other testing methods5–8

Compared with many other techniques such as fluorescence in situ hybridisation (FISH) and immunohistochemistry (IHC), FoundationOne offers improved detection levels because it uses hybrid capture-based next-generation sequencing (NGS) to sequence the entire coding regions of hundreds of known cancer-related genes, providing high uniform coverage across all genes sequenced, ensuring that common and rare alterations are identified, with high sensitivity.5–8 This technique allows for the identification of common and rare mutations.4 The service provides a rapid turnaround, giving clinicians the chance to act quickly on the findings. FoundationOne genomic profiling is also supported by one of the world’s most comprehensive patient genomic databases and backed by global experts in the field, ensuring a high quality, comprehensive report, and access to these experts should any assistance be required following receipt of the report. 

FoundationOne may expand diagnosis and treatment options for patients by identifying clinically relevant genomic alterations that other standard of care techniques may otherwise miss6–11
Traditional standard of care techniques, such as IHC, continue to play an important role in the diagnosis of some cancer types, such as when a single biomarker test is required to determine the presence or absence of specific alterations associated with treatment success for an approved therapy. Comprehensive genomic profiling offers the ability to detect multiple biomarkers and alterations at once, without the need for predetermination of the targets (meaning the targets are known ahead of testing). These tests offer particular value in cases where it may be less clear what to test for.6–11
FoundationOne can identify alterations present in a range of different cancer types4

FoundationOne provides comprehensive genomic profiling, so it is not necessary to pre-specify an alteration of interest. It is shown that the majority of potentially clinically relevant alterations can be missed using traditional profiling approaches that test for predefined alterations based upon physician expectations.6–11 In a study of approximately 7,300 solid tumour specimens, the potential benefit of targeted therapy for known oncogenic ERBB2 (also known as HER2) alterations, common to breast, gastric and gastroesophageal (GE) cancers, was investigated. In this study, ERBB2 alterations were detected in 27 different tissue types, and ERBB2 amplification alterations that were detected in GE junction, breast and gastric cancers accounted for only 30% of all known oncogenic ERBB2 alterations detected.7

Performing comprehensive hybrid capture-based NGS led to the detection of base substitution, rearrangement, insertion/deletion and amplification genomic alterations across the entire range of cancer types tested. The findings of this study highlight that, compared with current clinical standards, comprehensive genomic profiling could more accurately identifty patients that could benefit from ERBB2-targeted therapies.*7

Patients in whom clinically relevant alterations may be detected using comprehensive genomic profiling7
FoundationOne provides comprehensive genomic profiling that can identify more alterations than NGS hotspot analysis4,17,18
NGS hotspot analysis (amplicon-based) sequences only select regions or ‘clusters’ of genes that are known to be associated with the onset of cancers. Although more comprehensive than fluorescent in situ hybridisation (FISH) or reverse transcription polymerase chain reaction (RT-PCR) techniques, this technique provides limited analysis, and it is estimated that, without supplemental FISH assays, a hotspot gene panel may miss up to 50% of clinically relevant alterations recommended for testing by the NCCN guidelines.17 Additionally, this type of testing typically identifies base substitutions with high sensitivity but can only detect small insertions and deletions with low sensitivity.18 Many alterations may therefore still be missed during NGS hotspot testing compared with FoundationOne, which offers comprehensive genomic profiling (hybridisation capture) testing of >99% of the coding sequences of  many cancer-related genes.4
Hotspot testing does not identify as many alterations as comprehensive genomic profiling4,17,18
Hotspot testing does not identify as many alterations as comprehensive genomic profiling4,17,18


The superior level of detection that FoundationOne offers over NGS hotspot analysis is proven in several studies:

17% (12/71) of patients testing positive for an EGFR exon 19 deletion had previously tested negative using NGS hotspot analysis.5
Without a supplemental FISH assay, hotspot testing may miss up to 50% of targetable alterations that the National Comprehensive Cancer Network (NCCN) guidelines recommend testing for with molecular profiling.17
88% of predictive KRAS alterations outside the codon 12/13 hotspot region had been missed by previous hotspot testing.19
  1. FoundationOne technical information.
  2. Chalmers ZR et al. Genome Med 2017; 9:34.
  3. Castro MP et al. J. Immunother 2015; 3:58.
  4. Frampton, GM et al. Nat Biotechnol 2013; 31:1023–1031
  5. Schrock AB et al. Clin Cancer Res 2016; 13:3281–3285.
  6. Ali SM et al. Oncologist 2016; 6:762–670.
  7. Chmielecki J et al. Oncologist 2015; 20:7–12.
  8. Rozenblum AB et al. J Thorac Oncol 2017; 2:258–268 (and supplementary material).
  9. Chen AY-Y and Chen A. J Invest Dermatol 2013; 133:e8.
  10. Bridge JA. J Orthop Sci 2008; 13:273–282.
  11. Angulo B et al. PLoS One 2012; 8:e43842.
  12. Bishop R. Bioscience Horizons 2010; 1:85–95.
  13. Hu L et al. Biomark Res 2014; 2:3.
  14. Lin F and Prichard J (eds). Handbook of Practical Immunohistochemistry 2015. Frequently Asked Questions, 2nd edition. Springer Science+Business Media 2015.
  15. Pekar-Zlotin M et al. The Oncologist 2015; 20:316–322.
  16. Leong T Y-M et al. Adv Anat Pathol 2010; 17:404–418.
  17. Suh JH et al. The Oncologist 2016; 21:684–691.
  18. Drilon A et al. Clin Cancer Res 2015; 21:3631–3639.
  19. Rankin A et al. The Oncologist 2016; 11:1306–1314.