Explore our tests
Biomarkers
BRCA1 and BRCA2 genes are important biomarkers in ovarian cancer, as mutations in these genes are associated with an increased risk of developing the disease. Individuals who test positive for BRCA mutations may benefit from risk-reducing surgeries and targeted therapies. GIS (genomic instability score) and HRD (homologous recombination deficiency) are other biomarkers that are used to identify patients who may benefit from specific treatments. HRD-positive patients may respond better to platinum-based chemotherapy, while HRD-negative patients may require alternative treatment strategies.
Split-up of the population exhibiting mutations and ovarian cancer
For Patients
Ovarian cancer affects the ovaries, which are organs of the female reproductive system. Ovarian cancers can be of epithelial or stromal origin. The most well studied ovarian cancer with respect to genetic changes is epithelial ovarian cancer. In particular, high-grade serous ovarian cancer is often driven by defects in a DNA repair pathway known as the Homologous Repair Pathway. Other ovarian cancers include clear cell ovarian carcinoma, carcinosarcoma and mucinous ovarian carcinoma. For these cancers, broader genetic testing with a larger panel of genes is more applicable.
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If you have finished a round of primary treatment for your tumour
After finishing a round of primary treatment, your doctor will likely consider putting you on a maintenance therapy regimen, which involves targeted therapy. One class of drugs that is usually considered for high-grade serous, endometrioid or clear cell carcinomas is PARP inhibitors. PARP inhibitors affect the DNA synthesis and repair pathways in a cell and it has been found that mutations in genes that are involved in repair of DNA when it is damaged (the homologous repair pathway-most notable within this family are the BRCA1 and BRCA2 genes) render sensitivity to these drugs. Many of these mutations are germline mutations, or inherited mutations. However sometimes these mutations may be somatic mutations and hence testing tumour tissue can also be useful.
In addition to testing for mutations in these genes, we can also test for a genomic signature which assesses the effect of these mutations. The HRD ( Homologous Repair Deficiency) test thus measures not only mutations in genes, but also the genomic scar signature, which is a measure of the genomic instability of the tumour. Studies have shown that a high genomic instability score is associated with response to PARP inhibitors. In addition to BRCA mutations, mutations in other genes, and other mechanisms also lead to defective homologous repair, and HRD testing can identify these cases as well.
PARP inhibitors can be given as maintenance therapy following primary treatment, in early to late stage ovarian cancer, as well as later line therapy for metastatic ovarian cancer as well.
If you have recurrent or metastatic disease
If you have advanced disease then testing for defects in the HRD pathway i.e. testing for BRCA1/2 mutations or a genomic HRD test is useful for assessing likely response to a class of drugs known as PARP inhibitors. In addition to this, on rare occasions, tumours may contain a well-known mutation in the BRAF gene, which indicates possible response to a certain combination of drugs known as MEK inhibitors. Genomic profiling using a large genetic panel can identify such mutations, as well as mutations in other genes for which drugs are being used in other tissues or are being explored and researched in clinical trials.
If you have unresponsive disease or are interested in novel therapy options
Sometimes a tumour, despite being given appropriate treatment, does not respond well to the therapeutic regimen. In such cases you and the clinician might want to consider other targeted therapy options if available. It may be useful to profile these tumours with a broad large panel of genes that are mutated across a variety of cancers as there may be a possibility that one of them is also mutated in your tumour. If such a gene is identified, it may open up additional avenues of treatment with targeted therapy. Hence,you and your doctor may consider Strand’s large panel genetic tests for such cancers if you would like to explore other potential treatment options. Large panel testing can also help determine your suitability for immunotherapy by measuring the Tumour Mutational Burden (TMB) and Microsatellite Instability (MSI). Both these are a measure of the immunogenicity of the tumour i.e. how well it can be recognized and attacked by the immune system. Large panels can also be used at the outset if you are interested in comprehensively understanding a tumour’s genetic makeup before starting treatment.
Test Portfolio
Test Name
No.of genes
Select
PDL-1 SP142 (Ventana)
1
Final Diagnosis Panel (by IHC)
1
Homologous Recombination Repair Test (HRR)
14
Homologous Recombination Deficiency Test (HRD)
2
Germline BRCA1 & BRCA2 Test
2
Germline 3 Gene Test
3
Somatic BRCA Test
2
HBOC Basic Panel (4 Gene)
4
Strand HBOC Comprehensive Panel (19 Gene)
19
Hereditary Cancer Test
35
Comprehensive Genomic Profiling – StrandAdvantage 500 Advanced (DNA+RNA)
523
Comprehensive Genomic Profiling – StrandAdvantage 500 Basic (DNA)
523
We provide genetic counselling to help you understand your test reports
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Our certified genetic counselors will guide you through the test details and possible outcomes based on your family history.
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Our genetic counselors will walk you through your genetic test report and explain the implications of your results and further plan of action