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Ovarian cancer (epithelial) – panel testing

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  • Individual with high grade, invasive non-mucinous epithelial ovarian cancer*

* In this protocol 'epithelial ovarian cancer' is used to collectively refer to epithelial ovarian, fallopian tube and peritoneal cancer.

Note

A variant-specific test (rather than sequencing a single gene or gene panel) may be more appropriate and cost effective where a known germline pathogenic variant has been identified in a relative.

However, panel testing should still be considered if:

  • the specific pathogenic variant is not identified
  • warranted due to family history
  • needed for treatment decision making.

Considerations related to paired or sequential tumour/germline testing can be found here Germline testing in individuals for whom BRCA1 and BRCA2 tumour testing may inform systemic therapy options.

The decision to offer a genetic test should be based on the pre-test probability of identifying a heritable pathogenic variant, and the performance of the test (e.g. false negative rate).

Genetic testing is important for good clinical care of individuals who are suspected of having a familial cancer predisposition and may have important treatment implications. It may also help clarify risk for their relatives.

The results of the following investigations may influence the likelihood of detecting a heritable pathogenic variant:

  • verification of ovarian cancer pathology
  • result of BRCA1 and BRCA2 gene and/or HRD (homologous recombination deficiency) tumour testing
  • immunohistochemistry for the MMR proteins MLH1, MSH2, MSH6 and PMS2, particularly where there is one or more of:
    • a personal and/or family history of colorectal cancer
    • a personal and/or family history of endometrial cancer
    • the ovarian cancer has clear cell or endometrioid histology.
Factor Gene Probability of detecting a heritable pathogenic variant
High-grade non-mucinous epithelial ovarian cancer ≤70 years of age, with no family history of breast or ovarian cancer BRCA1 or BRCA2 9%r
Unselected epithelial ovarian cancer BRCA1 or BRCA2 11.3%r
BRIP1 0.9%r
RAD51C or RAD51D 1.0%r
PALB2 0.4%r
MMR genes 0.5%r

When choosing genes to include in a gene panel, care should be taken to select genes that have both clinical validity and clinical utility for the phenotype of concern.

The likelihood of identifying a variant of uncertain significance increases as the number of genes included in a panel increases.

Genes associated with epithelial ovarian cancer
Gene# Comment
BRCA1

International consensus and eviQ risk management guidelines have been developed

Potential treatment implications for cancer-affected individuals
BRCA2

International consensus and eviQ risk management guidelines have been developed

Potential treatment implications for cancer-affected individuals
BRIP1 International consensus and eviQ risk management guidelines have been developed
MMR genes MLH1, MSH2, MSH6, PMS2, EPCAM##

International consensus and eviQ risk management guidelines have been developed

Potential treatment implications for cancer-affected individuals
PALB2 International consensus and eviQ risk management guidelines have been developed
RAD51C International consensus and eviQ risk management guidelines have been developed
RAD51D International consensus and eviQ risk management guidelines have been developed

# Genes are listed alphabetically; the order of listing does not give any indication of the clinical validity/utility of testing the gene

## 'EPCAM' refers to a deletion in EPCAM affecting MSH2 function

Predictive testing should never be ordered for a variant of uncertain significance or a benign/likely benign variant.

In addition to sequencing using genomic sequencing (“next generation sequencing” or NGS), a range of other testing methodologies may be needed to identify pathogenic changes in the genes in the panel including:

  • Sanger sequencing
  • copy number analysis 
  • methylation analysis
  • analysis for structural rearrangements (MSH2 inversion)
  • In tumours with evidence of mismatch repair deficiency, consideration of relevant testing methods is necessary (e.g. long range PCR), see Mismatch repair (MMR) – genetic testing document.

Information about DNA tests and testing laboratories is available from:

A variant-specific test (rather than sequencing a single gene or gene panel) may be more appropriate and cost effective where a relative is known to have a germline pathogenic variant or a pathogenic variant has been identified in the patient’s tumour.

If these genes are tested using genomic sequencing (“next generation sequencing” or NGS), and testing has not identified a pathogenic variant, the value of testing using another methodology should be considered.

If genetic testing in DNA from peripheral blood does not identify a pathogenic variant, testing of other tumour and tissue samples may be indicated to assess for mosaicism.

Result Reference database Considerations and advice
Pathogenic variant search
Pathogenic variant ClinVar opens in a new tab or window
Variant of uncertain significance

Review pathogenicity of variants periodically

Identify other genes for which a pathogenic variant search could be considered
No reportable variant   Identify other genes for which a pathogenic variant search could be considered

If a pathogenic variant is identified, refer to a clinical genetics service or familial cancer centre opens in a new tab or window for review, family risk notification and predictive testing.

If a variant of uncertain significance is identified, consider referral to a clinical genetics service or familial cancer centre for review and guidance.

If a mosaic pathogenic variant is identified, refer to a clinical genetics service or familial cancer centre for review and guidance about the penetrance of phenotypic features (including cancer/tumour risk).

For additional information about the management of genetic test results when ordered by a non-genetic healthcare professional refer to eviQ’s Guide for health professionals ordering genetic testing.

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Bibliography

NCCN Clinical Practice Guidelines in Oncology - Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic - Version 3.2023

Version 3

Date Summary of changes
23/10/2024 Protocol reviewed at March 2022 cancer genetics reference committee meeting. Discussions continued out of session via MS Teams and email. All sections of protocol revised. Refer to PDF of previous version to compare changes. Version increased to V.3. Published on 23/10/2024. Review in 1 year. 

Version 2

Date Summary of changes
23/01/2023

The following sections of the document were updated to align with the new eviQ cancer genetics panel testing template:

  • Target population: 
    • Added note "In the following settings a variant-specific test (rather than sequencing a single gene or gene panel) may be more appropriate and cost effective:
      • Where a known germline pathogenic variant has been identified in a relative
      • Where a specific pathogenic variant has been identified on somatic tumour testing"
  • Genes that might be included in a panel:
    • Wording updated and links to relevant eviQ risk management guidelines added
  • Circumstances in which testing is not indicated:
    • Removed "A variant-specific test (rather than sequencing a single gene or gene panel) may be more cost effective and appropriate where: 
      • a specific pathogenic variant has been identified on somatic tumour testing.
      • a known pathogenic variant has been identified in a relative."
    • Added "Predictive testing should never be ordered for a variant of uncertain significance or a benign/likely benign variant"
  • Testing methods:
    • Added "A variant-specific test (rather than sequencing a single gene or gene panel) may be more appropriate and cost effective where a relative is known to have a germline pathogenic variant or a pathogenic variant has been identified in the patient’s tumour."
    • Removed "MLPA and Sanger sequencing"
  • Result interpretation:
    • HGMD and DMuDB removed from table. 
    • Template sentence added.

Version number increased to V.2.

Version 1

Date Summary of changes
13/01/2021 New protocol developed and discussed at August 2020 cancer genetics reference committee meeting. Approved for publication as V.1. Review in 1 year.
11/10/2021 Protocol title changed from 'Ovarian cancer (epithelial) panel testing' to 'Ovarian cancer (epithelial) – panel testing'.
10/11/2021 Removed link to "European Directory of DNA Diagnostic Laboratories"

The information contained in this document is based on the highest level of available evidence and consensus of the eviQ reference committee regarding their views of currently accepted approaches to care or treatment. Any clinician seeking to apply or consult this document is expected to use independent clinical judgement in the context of individual clinical circumstances to determine any patient's care or treatment. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use is subject to eviQ’s disclaimer available at www.eviQ.org.au

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https://www.eviq.org.au/p/3783

21 Jun 2025