In cancer genetics, the right test, at the right time.
Comprehensive oncogenetic testing to identify inherited risk early, reveal treatment options based on the molecular make-up of a tumour and avoid unnecessary treatment. Working with patients and physicians alike, we are with you every step of the way.
What can cancer genetics tell you?
Oncogenetic tests set out to answer three key questions. Which one matters to you depends on your diagnosis and the stage of your disease.
Inherited risk
Examines the variants we are born with (germline). Knowing your risk early changes your screening and prevention plan, and your family members benefit from this knowledge too.
OncoSeq® and ExoSeq® “Is there a treatment specific to my tumour?”Tumour profile
Examines changes acquired within the tumour (somatic), guiding the choice of targeted therapies, immunotherapy and clinical trials.
CanAct® X Solid and Liquid “Do I really need chemotherapy?”Prognosis
In early-stage breast cancer, measures the risk of recurrence and the absolute benefit of chemotherapy, providing objective support for treatment decisions.
EndoPredict®OncoSeq®
The OncoSeq® series uses next-generation sequencing (NGS) to detect genetic variants associated with hereditary cancer risk. Unlike screening methods such as mammography or PSA, it contributes not to early detection but to prevention: when risk is known early, screening frequency, preventive options and testing for family members can all be planned.
- People with a family history of breast, ovarian, colorectal, pancreatic or prostate cancer
- People diagnosed with cancer before the age of 50, and those with bilateral or multiple primary tumours
- Patients diagnosed with triple-negative breast cancer, male breast cancer or ovarian cancer
- Other family members, where a mutation is already known in the family
- Method
- Next-generation sequencing (NGS)
- Sample
- Blood (EDTA tube)
- Turnaround time
- 2–4 weeks
- Reported
- Pathogenic, likely pathogenic and variants of uncertain significance (VUS)
- Interpretation
- ACMG criteria; ClinVar, Varsome, Franklin
Core 12-gene hereditary cancer panel
Expanded 25-gene hereditary cancer panel
Comprehensive 50-gene hereditary cancer panel
Comprehensive hereditary cancer panel
CanAct® X
CanAct® X is a comprehensive genomic profiling test that examines 523 genes with known or newly identified associations with cancer in a single analysis. It detects point mutations, small insertions/deletions, copy number variations, translocations, MSI and TMB arising during tumour development or in metastatic tissue, and matches the results to treatment options and clinical trials.
- Metastatic or advanced solid tumours
- Selection of targeted therapy or immunotherapy
- Investigation of treatment resistance mechanisms
- Analysis from blood (Liquid) when a biopsy is not possible
- Method
- DNA + RNA next-generation sequencing
- Sample
- Solid: FFPE tumour tissue · Liquid: blood in a cell-free DNA tube
- Turnaround time
- 3–4 weeks
- Reported
- SNVs, indels, CNVs, fusions, MSI, TMB
- Evidence
- AMP/ASCO/CAP levels; FDA and NCCN references; clinical trial matching
Comprehensive 523-gene tumour profile — tissue
523 genes + 23 fusions — liquid biopsy from blood
EndoPredict®
Developed by Myriad Genetics, EndoPredict® combines a 12-gene molecular score with tumour size and nodal status to calculate the EPclin risk score in ER-positive, HER2-negative early-stage breast cancer. With endocrine therapy alone, more than 95% of patients in the low-risk group remained free of distant recurrence at 10 years1.
- ER+, HER2– invasive primary breast cancer with 0–3 positive lymph nodes
- Cases where the chemotherapy decision is unclear based on clinical factors
- Older patients or those with comorbidities for whom avoiding chemotherapy toxicity is a priority
- Method
- RT-PCR gene expression
- Sample
- FFPE tumour tissue, 10 µm sections, tumour content ≥30%
- Turnaround time
- Usually within 1 week
- Level of evidence
- Level 1; NCCN, ASCO, ESMO, St. Gallen and AGO guidelines
- Impact
- Changed the treatment decision in about one third of patients (37.7%) in clinical practice2
ExoSeq® GI & Onco
Panels that examine broad gene sets using a whole exome sequencing platform. ExoSeq® GI focuses on gastrointestinal cancer syndromes (Lynch, FAP, MUTYH, hereditary diffuse gastric cancer, hereditary pancreatic cancer), while ExoSeq® Onco assesses a wide range of hereditary cancer syndromes together across 173 genes.
- Method
- Whole exome sequencing (NGS)
- Sample
- Blood (EDTA tube)
- Turnaround time
- 6 weeks
- Output
- Clinical report + FASTQ, VCF
Test selection by cancer type
See the inherited risk, tumour profiling and prognosis steps for each cancer type, together with the key biomarkers and relevant tests.
Breast cancer is the cancer type with the widest range of tests in use: inherited risk assessment, prognostic scoring in early-stage disease and tumour profiling in metastatic disease.
Inherited risk
- Diagnosis before the age of 50
- Bilateral or multiple primary tumours
- Breast, ovarian or pancreatic cancer in two or more first-degree relatives
- Triple-negative breast cancer at any age; male breast cancer
Prognosis in early-stage disease
- HR+ / HER2–, N0–N1 (0–3 positive nodes)
- Cases where the chemotherapy decision is unclear based on clinical factors
Tumour profiling in metastatic disease
- Selection of targeted therapy in metastatic disease
- ESR1 monitoring on progression during aromatase inhibitor therapy (Liquid)
| Biomarker | Clinical significance | Test |
|---|---|---|
| BRCA1/2 | Hereditary breast and ovarian cancer syndrome; prevention and screening decisions, response to PARP inhibitors | OncoSeq® |
| PALB2 | High penetrance; BRCA2-like risk | OncoSeq® S / VS / X |
| CHEK2, ATM | Moderate penetrance; manageable with enhanced screening | OncoSeq® C / S |
| TP53, PTEN | Li-Fraumeni and Cowden syndromes | OncoSeq® C / S |
| PIK3CA | The most common somatic mutation in HR+ metastatic disease (~40%3); alpelisib | CanAct® X |
| ESR1 | Aromatase inhibitor resistance; elacestrant / fulvestrant decision | CanAct® X Liquid |
| ERBB2 (HER2) | Amplification / mutation; HER2-targeted therapies | CanAct® X |
| MSI-H / TMB-H | Rare; if present, an immunotherapy option | CanAct® X |
In non-small cell lung cancer (NSCLC), comprehensive tumour profiling is recommended at diagnosis; many targeted therapies are selected on the basis of this profile.
Tumour profiling at diagnosis
- Comprehensive DNA + RNA profiling in all newly diagnosed advanced NSCLC
When biopsy is not possible / resistance monitoring
- Insufficient tissue or high-risk biopsy
- T790M, C797S, MET amplification on progression after EGFR TKI
| Biomarker | Clinical significance | Test |
|---|---|---|
| EGFR exon 19 / L858R | First-line EGFR TKI (osimertinib) | CanAct® X |
| EGFR T790M | Resistance mutation; preferably monitored from blood | CanAct® X Liquid |
| ALK, ROS1, RET, NTRK fusions | Targeted fusion inhibitors; detected by RNA analysis | CanAct® X |
| KRAS G12C | Sotorasib / adagrasib | CanAct® X |
| BRAF V600E | Dabrafenib + trametinib | CanAct® X |
| MET exon 14 | Capmatinib / tepotinib | CanAct® X |
| MSI-H / TMB-H | Immunotherapy option | CanAct® X |
| PD-L1 | Immunotherapy decision; assessed by immunohistochemistry in pathology | IHC (pathology) |
In colorectal cancer, inherited assessment for Lynch syndrome and polyposis syndromes is key, while in metastatic disease tumour profiling guides anti-EGFR and other therapies.
Inherited risk
- Diagnosis before the age of 50 or Amsterdam II criteria
- MSI-H / MMR deficiency
- More than 100 polyps (FAP) or 10–100 polyps (AFAP / MUTYH)
Tumour profiling in metastatic disease
- KRAS / NRAS status if anti-EGFR therapy is planned
- Assessment of BRAF, HER2, MSI and NTRK
| Biomarker | Clinical significance | Test |
|---|---|---|
| MLH1, MSH2, MSH6, PMS2, EPCAM | Lynch syndrome; early and frequent colonoscopy | OncoSeq® / ExoSeq® GI |
| APC | Familial adenomatous polyposis (FAP) | OncoSeq® / ExoSeq® GI |
| MUTYH (biallelic) | MUTYH-associated polyposis | OncoSeq® / ExoSeq® GI |
| KRAS / NRAS | If mutated, anti-EGFR therapy is not appropriate | CanAct® X |
| BRAF V600E | Encorafenib + cetuximab-based therapy | CanAct® X |
| MSI-H | First-line immunotherapy | CanAct® X |
| ERBB2 amplification | HER2-targeted therapy | CanAct® X |
In ovarian cancer, hereditary BRCA and other homologous recombination genes matter both for the family and for PARP inhibitor decisions.
Inherited risk
- All patients diagnosed with ovarian cancer
- Family history of ovarian and breast cancer
Tumour profiling
- Somatic BRCA in newly diagnosed advanced disease
- Platinum-resistant recurrence
| Biomarker | Clinical significance | Test |
|---|---|---|
| BRCA1/2 (germline) | Prevention decisions and response to PARP inhibitors | OncoSeq® |
| BRCA1/2 (somatic) | Detected in some germline-negative patients; PARP inhibitors | CanAct® X |
| PALB2, RAD51C, RAD51D | Moderate-to-high penetrance ovarian cancer genes | OncoSeq® S / VS / X |
| MSI-H / TMB-H | Immunotherapy option | CanAct® X |
In pancreatic cancer, hereditary BRCA2 / PALB2 variants influence maintenance therapy decisions; in KRAS wild-type tumours, rare but targetable alterations are sought.
Inherited risk
- All patients diagnosed with pancreatic cancer
- Family history of both pancreatic and breast cancer
Tumour profiling
- NTRK, FGFR2, RET, MSI, TMB in KRAS wild-type tumours
| Biomarker | Clinical significance | Test |
|---|---|---|
| BRCA2, PALB2 | Olaparib maintenance in platinum-responsive metastatic disease | OncoSeq® |
| ATM, MLH1/MSH2 | Inherited risk; Lynch syndrome | OncoSeq® |
| KRAS G12C | Rare; sotorasib | CanAct® X |
| NTRK, FGFR2 fusions | Targetable alterations in KRAS wild-type disease | CanAct® X |
| MSI-H | Immunotherapy option | CanAct® X |
In advanced melanoma, BRAF status determines treatment selection; in familial melanoma, hereditary genes are assessed.
Tumour profiling
- BRAF, NRAS, KIT and TMB in advanced disease
Inherited risk
- Melanoma in two or more first-degree relatives
| Biomarker | Clinical significance | Test |
|---|---|---|
| BRAF V600E / V600K | BRAF + MEK inhibitor combination | CanAct® X |
| NRAS Q61 | MEK inhibitor options | CanAct® X |
| KIT | In acral and mucosal melanoma; KIT inhibitors | CanAct® X |
| TMB-H | Response to immunotherapy | CanAct® X |
| CDKN2A, CDK4 (germline) | Familial melanoma predisposition | ExoSeq® Onco / OncoSeq® VS |
In gastric and gastro-oesophageal junction cancer, HER2, MSI and FGFR2 are assessed through tumour profiling, while hereditary diffuse gastric cancer is assessed through CDH1.
Tumour profiling
- Newly diagnosed advanced disease
Inherited risk
- Diffuse type with a family history (CDH1)
- Diagnosis before the age of 50 (Lynch work-up)
| Biomarker | Clinical significance | Test |
|---|---|---|
| ERBB2 (HER2) amplification | Trastuzumab + chemotherapy | CanAct® X |
| MSI-H / MMR deficiency | Immunotherapy | CanAct® X |
| FGFR2 amplification | FGFR2-targeted therapy trials | CanAct® X |
| CDH1 (germline) | Hereditary diffuse gastric cancer; genetic counselling | ExoSeq® GI / OncoSeq® S |
| CLDN18.2 | Zolbetuximab decision; assessed by immunohistochemistry in pathology | IHC (pathology) |
In endometrial cancer, molecular classification (POLE, MMR, TP53) determines prognosis and treatment; inherited assessment for Lynch syndrome is important.
Inherited risk
- Diagnosis before the age of 60 or a family history of Lynch syndrome
Molecular classification
- Assessment of POLE, MSI, TP53, PTEN, PIK3CA and ERBB2
| Biomarker | Clinical significance | Test |
|---|---|---|
| POLE | Ultramutated subtype; best prognosis | CanAct® X |
| MSI-H / MMR | Immunotherapy; Lynch work-up | CanAct® X / OncoSeq® |
| TP53 | Subtype with the poorest prognosis | CanAct® X |
| PTEN, PIK3CA | Common in the endometrioid type; targeted therapy trials | CanAct® X |
| ERBB2 amplification | HER2-targeted therapy in the serous type | CanAct® X |
In metastatic urothelial cancer, targetable alterations such as FGFR3 and HER2, as well as immunotherapy markers, are identified through tumour profiling.
Tumour profiling
- Metastatic or advanced disease
| Biomarker | Clinical significance | Test |
|---|---|---|
| FGFR3 mutation / fusion | Erdafitinib | CanAct® X |
| ERBB2 amplification | HER2-targeted therapy | CanAct® X |
| MSI-H / TMB-H | Immunotherapy | CanAct® X |
| BRCA2, ATM | Referral to PARP inhibitor trials | CanAct® X |
| PD-L1 | Immunotherapy decision; assessed by immunohistochemistry in pathology | IHC (pathology) |
In metastatic prostate cancer, both germline and somatic DNA repair genes influence PARP inhibitor decisions; with a family history, genes such as HOXB13 are assessed.
Inherited risk
- Every metastatic case
- Family history of prostate, breast, ovarian or pancreatic cancer
Tumour profiling
- Metastatic castration-resistant disease
- Progression after enzalutamide / abiraterone (Liquid)
| Biomarker | Clinical significance | Test |
|---|---|---|
| BRCA1/2 | PARP inhibitors (olaparib, rucaparib) | OncoSeq® / CanAct® X |
| CDK12 (biallelic) | Immunotherapy assessment | CanAct® X |
| ATM, CHEK2 | Inherited risk; DNA repair pathway | OncoSeq® / CanAct® X |
| MSI-H / TMB-H | Immunotherapy | CanAct® X |
| AR | Androgen receptor pathway resistance | CanAct® X |
This guide is intended as general information for healthcare professionals and is not a substitute for clinical decision support for an individual patient. Test selection and treatment decisions are made by the physician.
General reference matrix
See at a glance which test category is recommended, and when, for each cancer type.
| Cancer type | Hereditary screening (OncoSeq / ExoSeq) | Tumour profiling (CanAct X Solid) | Prognosis (EndoPredict) | ExoSeq GI | Liquid biopsy (CanAct X Liquid) |
|---|---|---|---|---|---|
| Breast | Routinely recommended | Routinely recommended | Routinely recommended | Generally not indicated | Routinely recommended |
| Lung | In specific scenarios | Routinely recommended | Generally not indicated | Generally not indicated | Routinely recommended |
| Colorectal | Routinely recommended | Routinely recommended | Generally not indicated | Routinely recommended | Routinely recommended |
| Ovarian | Routinely recommended | Routinely recommended | Generally not indicated | Generally not indicated | In specific scenarios |
| Pancreatic | Routinely recommended | Routinely recommended | Generally not indicated | In specific scenarios | In specific scenarios |
| Melanoma | In specific scenarios | Routinely recommended | Generally not indicated | Generally not indicated | In specific scenarios |
| Gastric / GEJ | In specific scenarios | Routinely recommended | Generally not indicated | Routinely recommended | In specific scenarios |
| Endometrial | Routinely recommended | Routinely recommended | Generally not indicated | Generally not indicated | In specific scenarios |
| Bladder | In specific scenarios | Routinely recommended | Generally not indicated | Generally not indicated | In specific scenarios |
| Prostate | Routinely recommended | Routinely recommended | Generally not indicated | Generally not indicated | In specific scenarios |
Questions about oncology tests
How do I know which test I need?
Oncology tests are chosen according to your diagnosis, the stage of your disease and your family history. When you send us your request, our team will talk with you and, if needed, with your oncologist to choose the most appropriate test together.
Do I need to bring the tissue sample myself?
No. Tests such as CanAct® X Solid and EndoPredict® are performed on paraffin blocks taken previously at biopsy or surgery and stored in the pathology department. Obtaining these samples is planned together with your physician and the pathology department.
What is the difference between a hereditary test and a tumour test?
Hereditary (germline) tests examine, from a blood sample, the variants you were born with and that may be passed on in your family. Tumour (somatic) tests examine only the changes acquired within the tumour, using tumour DNA from tissue or blood, and help guide the choice of treatment.
What happens if my result is positive?
Your report is prepared and reviewed by medical genetics specialists. Genetic counselling is offered to individuals found to be at high risk, and next steps such as screening, preventive options and testing for family members are planned together with your physician.
What language are the reports in?
Laboratory reports are prepared in English, to international standards. We then go through your results together with you and your physician.
Clinical figures on this page are based on peer-reviewed publications; the numbers next to each figure refer to the sources below.
- Filipits M, Rudas M, Jakesz R, et al. A new molecular predictor of distant recurrence in ER-positive, HER2-negative breast cancer adds independent information to conventional clinical risk factors. Clin Cancer Res. 2011;17(18):6012-6020. doi:10.1158/1078-0432.CCR-11-0926 · PubMed10-year distant recurrence rate of 4% in the EPclin low-risk group in ABCSG-6 and ABCSG-8.
- Müller BM, Keil E, Lehmann A, et al. The EndoPredict gene-expression assay in clinical practice — performance and impact on clinical decisions. PLoS One. 2013;8(6):e68252. doi:10.1371/journal.pone.0068252 · PubMedThe treatment decision changed in 37.7% of patients when pre- and post-test decisions were compared.
- André F, Ciruelos E, Rubovszky G, et al. Alpelisib for PIK3CA-mutated, hormone receptor-positive advanced breast cancer (SOLAR-1). N Engl J Med. 2019;380(20):1929-1940. doi:10.1056/NEJMoa1813904 · PubMedPIK3CA mutations occur in approximately 40% of patients with HR+/HER2− breast cancer.
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