Population genetic testing to detect inherited cancer risk
Population Based Germline Testing for Early Detection and Prevention of Cancer
This project will see if offering genetic testing to adults with female reproductive organs can find inherited changes that raise risk of breast, ovarian, bowel, and womb cancers so they can get earlier screening or preventive care.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 6000 (estimated) |
| Ages | 18 Years and up |
| Sex | Female |
| Sponsor | Queen Mary University of London Academic / other |
| Locations | 1 site (London) |
| Trial ID | NCT07498829 on ClinicalTrials.gov |
What this trial studies
This programme offers panel genetic testing for key cancer susceptibility genes (including BRCA1/2, PALB2, RAD51C/D, BRIP1, and several mismatch repair genes) to adults with female reproductive organs regardless of family history. Participants give consent, provide a sample, and receive personalised breast and ovarian cancer risk information and guidance on NHS screening or prevention options. People with prior testing for the listed genes or a known familial pathogenic variant are excluded. The project will test whether population-based germline testing is feasible and effective at identifying carriers and linking them to prevention pathways.
Who should consider this trial
Good fit: Adults aged 18 or older with female reproductive organs (including women, trans men, and non-binary people) who have not previously had genetic testing for the listed genes and who can provide informed consent.
Not a fit: People who have already had genetic testing for the specified genes, who have a first- or second-degree relative with a known pathogenic variant in those genes, or who cannot provide informed consent are unlikely to benefit from joining.
Why it matters
Potential benefit: If successful, this could identify people with high inherited cancer risk who can access earlier screening or preventive treatments, potentially reducing advanced cancers and deaths.
How similar studies have performed: Prior targeted programmes and pilot population-screening projects have shown broader genetic screening can identify many carriers, but large-scale routine population testing is still being tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Women, trans men, and non-binary people with female reproductive organs * ≥18 years at consent Exclusion Criteria: * Individuals who have previously undergone genetic testing for one or more of the following CSGs: BRCA1, BRCA2, PALB2, RAD51C, RAD51D, BRIP1, MLH1, MSH2, MSH6 * One or more first- or second-degree relative with a PV in any of above CSGs * Inability to provide informed consent
Where this trial is running
London
- Wolfson Institute of Population Health, Queen Mary University of London — London, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Ranjit Manchanda, PhD — Wolfson Institute of Population Health, Queen Mary University of London
- Study coordinator: Ranjit Manchanda, PhD
- Email: r.manchanda@qmul.ac.uk
- Phone: +44 8008620236
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.