As a validated pan-cancer profile, FoundationOne® is designed to identify clinically actionable information that can help to guide treatment decisions and connect patients with potential treatments or available clinical trials.1-3

FoundationOne® utilises hybrid capture-based next-generation sequencing technology to detect all four classes of genomic alterations1,3 in 315 cancer-related genes, including selected introns from 28 genes, often rearranged or altered in solid tumours.5

 

All FoundationOne® samples are simultaneously profiled for Tumour Mutation Burden (TMB) and Microsatellite Instability (MSI).5

 

Comprehensive Genomic Profiling

             
             
315 genes interrogated
  Insertions & deletions
Base substitutions
Copy number alterations
Rearrangements
28 select introns profiled

No filter results

    315 genes interrogated
     
    Insertions & deletions
    Base substitutions
    Copy number alterations
    Rearrangements
  28 select introns profiled

No filter results

MSI: microsatellite instability; TMB: tumour mutation burden.

How accurate is FoundationOne®?

FoundationOne® identifies all four types of genomic alterations, across all genes known to be unambiguous drivers of solid tumours, with high sensitivity and specificity:5

TECHNICAL INFORMATION
BASE SUBSTITUTIONS2
INSERTIONS AND DELETIONS2
COPY NUMBER ALTERATIONS - AMPLIFICATIONS2
COPY NUMBER ALTERATIONS - DELETIONS2
REARRANGEMENTS11,12
Sensitivity

>99%

(MAF ≥5%)

>97%

(MAF ≥10%;

1-4obp)

>99%

(CNA ≥8; ≥30%

tumour nuclei)

>97%

(Homozygous

deletions; ≥30%

tumour nuclei)

>90%*

>99% for ALK fusion

(95% CI 89%-100%)†

(>20% tumour nuclei)

Specificity (PPV)
>99%
>99%
>99%
>99%
>99%*

No filter results

Technical information Sensitivity
Specificity (PPV)
Base substitutions²

>99%

(MAF ≥ 5%)

>99%
Insertions and deletions²

>97%

(MAF ≥ 10%;

1-4obp)

>99%
Copy number alterations - amplificatios²

>99%

(CNA ≥ 8; ≥ 30%

tumor nuclei)

>99%
Copy number alterations - deletions²

>97%

(Homozygus

deletions;  ≥ 30%

tumor nuclei)

>99%
Rearrangements¹¹ ¹²

>90%*

>99% for ALK fusion

(95% CI 89%-100%)†

(>20% tumor nuclei)

>99%*

No filter results

*Based on cell line titration experiments in 5 solid tumour fusion-bearing cell lines representing 32 gene-fusion cases in ALK, RET, ROS1 and TMPRSS2. 

Based on concordance analysis of detection of ALK fusions based on standard clinical FISH assay. 18/20 ALK fusion FISH-positive specimen detected plus two specimens showing sub-threshold events.

CNA: copy number alterations; FISH: fluorescence in situ hybridisation; MAF: mutant allele frequency; PPV: positive predictive value.

 

FoundationOne® publications

Validation

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing.

Nature Biotechnology. October 2013.

Selected publication

Comprehensive Genomic Profiling facilitates implementation of the National Comprehensive Cancer Network Guidelines for Lung Cancer biomarker testing and identifies patients who may benefit from enrollment in mechanism-driven clinical trials.

The Oncologist. June 2016.

 

FoundationOne® FAQs

  • Does the FoundationOne® CGP assay apply to all types of cancer?

    FoundationOne® can help deliver meaningful molecular insights across a range of solid tumour types, including but not limited to: Non-small Cell Lung Cancer (NSCLC), Breast Cancer, Colon Cancer, Melanoma Cancer and Brain Cancer.5

  • Who is eligible for a FoundationOne® profile?

    Any patient with a solid tumour is eligible to be profiled with FoundationOne®, providing there is access to a good quality tissue sample.13

  • How can FoundationOne® make a difference in clinical practice?

    FoundationOne® can help to maximise the chance of finding clinically actionable genomic alterations in clinical practice, potentially expanding treatment options for patients.1,2,14

     

    In a retrospective cohort study of 101 patients with advanced lung cancer who underwent FoundationOne® Comprehensive Genomic Profiling (n=82), 52.4% of patients (n=43/82) were identified as having a clinically actionable* genomic alteration, as specified by NCCN NSCLC Guidelines®.15 This outcome resulted in 72% of these patients receiving targeted therapy based on their FoundationOne® analysis (n=31/43).15 Overall, of the patients who received targeted therapies (n=37/101), 36.6% of patients would have been missed by standard testing alone.15

     

    *Alteration defined as actionable if associated with potential benefit from targeted therapy with US FDA-approved anticancer therapies (including off-label drugs).

    FISH: Fluorescence in situ hybridisation; IHC: immunohistochemistry; RT-PCR: Real-Time or Reverse Transcriptase Polymerase Chain Reaction.

  • What is Tumour Mutation Burden (TMB) and why is it useful?

    In addition to genomic targets, other biomarkers such as TMB can help us to understand more about tumour profiles.4,10,16-18

     

    TMB is defined as the total number of somatic mutations per coding area of a tumour genome.4 High TMB levels may help to predict response to cancer immunotherapies.4,10,16-18

  • What is Microsatellite Instability (MSI) and why is it useful?

    MSI occurs as a result of defects in DNA mismatch repair.19 Determining MSI status may help to predict response to immunotherapy in patients who have failed conventional therapy.10,20,21

How to order a FoundationOne® profile

Patients with solid tumours can be profiled with FoundationOne® with a FFPE sample. 

The average turn-around time for a FoundationOne® profile is 14 days from the date Foundation Medicine, Inc. laboratory in Boston receives the tissue sample.

When submitting specimens to Foundation Medicine, please include the following items in the FoundationOne® Specimen Kit:

Appropriate specimen per the FoundationOne® Specimen Guidelines

Completed Requisition Form

Copy of recent pathology/cytology reports

We have even more to offer - learn about our other profiles: