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Oncology

Presentation: Patient with ovarian cancer

Genomic testing in ovarian cancer affects clinical management of the current cancer and may affect management of the patient’s future cancer risk and that of their relatives.

Example clinical scenario

A 64-year-old woman is diagnosed with high-grade serous ovarian cancer. There is no significant family history of cancer. You wish to undertake genomic testing and are considering what constitutional (germline) and somatic (tumour) genomic testing is available and appropriate for her.

When to consider genomic testing

Constitutional (germline) testing

  • All women with high-grade non-mucinous epithelial ovarian cancer (at any age) are eligible for constitutional (germline) testing of a number of genes associated with ovarian cancer susceptibility as part of a multigene panel. At present, the panel includes BRCA1, BRCA2, PALB2, RAD51C, RAD51D, BRIP1, MLH1, MSH2 and MSH6 genes.

Somatic (tumour) testing

  • Somatic testing for BRCA1 and BRCA2 is available for all patients with a known high-grade serous ovarian cancer.
  • Tumour-based homologous repair deficiency testing is now available for patients with high-grade serous ovarian cancer being considered for first line PARP inhibitor treatment.
  • Somatic testing for NTRK1, NTRK2 and NTRK3 fusion genes is available for metastatic ovarian cancer patients as a biomarker for treatment with an NTRK inhibitor when all other approved lines of treatment have been exhausted.
  • Other somatic testing may be available to help in identifying suitable clinical trials. Please refer to the National Genomic Test Directory for more information.
  • For non-CNS adult solid tumours (25 years and older), whole genome sequencing is now only available through the NHS where there is a clear, clinical question and where results have expected utility/impact. Please discuss individual cases with your GLH cancer lead before requesting this.
  • In cases where histochemical confirmation is not possible, genomic testing of FOXL2, CTNNB1, APC and DICER1 can be requested to assist with the diagnosis of an ovarian sex cord stromal tumour.
  • Where available, testing of the tumour for somatic BRCA1/BRCA2 variants can be requested as test M2.1. This consists of next-generation sequencing (NGS) small variant analysis.
  • Testing of the tumour for homologous repair deficiency can be requested as test M2.5
  • NTRK fusion gene analysis of the tumour can be requested as test M2.3, which uses NGS structural variant analysis.
  • Testing of the tumour for FOXL2, CTNNB1, APC and DICER1 variants can be requested as test M245.1. This consists of NGS small variant analysis.
  • If, during tumour testing, a pathogenic variant is identified in a gene known to be associated with cancer predisposition that is suspected to be of constitutional (germline) origin (e.g. because of variant allele frequency, variant type or clinical factors), follow-up constitutional (germline) testing for the same variant may be appropriate (R240 Diagnostic testing for known mutation(s)), if germline testing has not already been undertaken. Patients with high-grade non-mucinous ovarian cancer are eligible for more comprehensive constitutional genomic testing, however. A negative tumour-based genomic test does not replace the need for constitutional testing in those individuals fulfilling constitutional genomic testing criteria, as somatic testing is unlikely to detect large genomic rearrangements.

What do you need to do?

  • Consult the National Genomic Test Directory. From here you can access:
    • the rare and inherited disease eligibility criteria for information about constitutional (germline) tests for patients with cancer and their associated eligibility criteria;
    • the test directory for rare and inherited disease, a spreadsheet of all available constitutional (germline) tests; and
    • the test directory for cancer, a spreadsheet of all available somatic (tumour) tests.
  • For constitutional (germline) genomic tests, decide which of the panels best suits the needs of your patient. For patients affected with ovarian cancer, the current options are:
    • R207 (inherited ovarian cancer (without breast cancer)) for living affected individuals with high-grade non-mucinous epithelial ovarian cancer or serous tubal intra-epithelial carcinoma. This is a broad panel of epithelial ovarian cancer susceptibility genes. You can view this up-to-date list of the genes included in this panel.
    • R208 (inherited breast cancer and ovarian cancer) should be offered in addition to R207 testing for living affected individuals with ovarian cancer at any age and a family history of breast, ovarian, prostate or pancreatic cancer. This tests for constitutional (germline) variants in breast cancer susceptibility genes ATM and CHEK2 (*truncating variants only) in addition to some of the genes included on the R207 panel.
  • A record of discussion (RoD) form is required before any constitutional (germline) genomic testing. If you have not completed an RoD form before and/or do not have access to one, see How to complete an RoD form.
  • For DNA-based constitutional (germline) tests (all the above listed tests), a blood sample in EDTA (typically a purple-topped tube) is required. Please refer to your local GLH for details of test request forms and where to send samples.
  • Where available, testing of the tumour for somatic BRCA1/BRCA2 variants can be requested as test M2.1. This consists of next-generation sequencing (NGS) small variant analysis.
  • Testing of the tumour for homologous repair deficiency can be requested as test M2.5.
  • NTRK fusion gene analysis of the tumour can be requested as test M2.3. This consists of NGS structural variant analysis (e.g. by RNA-seq).
  • Depending on the details you provide and the test that is chosen, a range of different genomic investigation techniques will be applied. These include (but are not restricted to):
  • WGS of any solid tumour where the patient has exhausted all standards of care, testing and treatment is requested as code M232. For WGS, you will require:
    • access to a fresh tumour sample and a matched blood (EDTA) sample (WGS requires paired somatic (tumour) and constitutional (germline) DNA analysis);
    • a completed RoD form; and
    • a discussion with your local GLH before submitting samples, to confirm the local test pathway details.
  • If you are discussing genomics concepts with your patients, you may find it helpful to use the visual communication aids for genomics conversations.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

For patients

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  • Last reviewed: 05/10/2025
  • Next review due: 05/10/2026
  • Authors: Dr Amy Frost
  • Reviewers: Dr Ellen Copson, Dr Clare Green, Dr Terri McVeigh, Dr Amal Singh, Professor Kate Tatton-Brown

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