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BRIDGES · Project

Turning Genetic Test Results into Accurate Breast Cancer Risk Scores for Clinics

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Right now, when a woman gets a genetic test for breast cancer risk, doctors often find DNA changes they can't interpret — nobody knows if they're dangerous or harmless. BRIDGES sequenced genes from 50,000 women to finally figure out which gene variants actually raise cancer risk and by how much. They built that knowledge into a computerized risk calculator that combines genetics with lifestyle factors. The goal: give genetic counsellors and patients a clear, personalized answer instead of an anxiety-inducing "we don't know."

By the numbers
360,000
Women affected by breast cancer per year in the EU
90,000
Breast cancer deaths per year in the EU
20,000
Breast cancer cases sequenced
20,000
Population-based controls sequenced
10,000
Cases from multiple-case families sequenced
11
Breast cancer high-risk genes catalogued for alternative splicing
18
Consortium partners
10
Countries represented in the consortium
21
Total project deliverables
The business problem

What needed solving

Every year, 360,000 women in the EU are diagnosed with breast cancer, and genetic panel testing is expanding rapidly. But most gene variants found in these tests have unknown clinical significance — doctors cannot tell patients whether their result is dangerous or benign. This creates anxiety for patients, liability concerns for labs, and wasted healthcare resources on unnecessary interventions or missed prevention opportunities.

The solution

What was built

BRIDGES built a comprehensive breast cancer risk model by sequencing 11 key genes across 50,000 individuals, combining genetic data with lifestyle factors into personalized risk scores. Concrete deliverables include: online risk estimation tools for clinicians, an e-learning platform for genetic counsellors, a patient decision aid for women with moderate risk, validated psychological distress screening instruments tested across EU clinics, and a catalogue of gene splicing variants in 11 breast cancer genes.

Audience

Who needs this

Genetic diagnostics companies selling hereditary cancer gene panelsHealth IT companies building clinical decision support for oncologyHospital networks and clinical genetics departmentsInsurance and actuarial companies modeling cancer riskPharma companies developing targeted breast cancer prevention drugs
Business applications

Who can put this to work

Genetic diagnostics
mid-size
Target: Companies that develop or sell gene panel tests for hereditary cancer

If you are a genetic diagnostics company selling breast cancer gene panels — this project built a comprehensive risk model covering 11 breast cancer genes validated against 20,000 cases and 20,000 controls. That dataset lets you move beyond just reporting raw variants and instead offer clinically actionable risk scores, which is exactly what regulators and clinicians are demanding. Integrating BRIDGES data could differentiate your panel from competitors still returning 'variant of uncertain significance' results.

Health IT / Clinical decision support
mid-size
Target: Companies building clinical decision support software for oncology or genetics clinics

If you are a health IT company building tools for genetics clinics — BRIDGES developed online risk estimation tools and an e-learning platform for genetic counsellors that translate complex multi-gene data into user-friendly risk reports. With over 360,000 new breast cancer cases per year in the EU alone, the clinical genetics market needs software that can handle panel test interpretation at scale. Licensing or integrating BRIDGES tools could fill a gap in your oncology decision-support product.

Hospital networks / Clinical genetics departments
enterprise
Target: Large hospital groups operating cancer genetics clinics

If you run clinical genetics services and your counsellors struggle with interpreting multi-gene panel results — BRIDGES produced validated patient decision aids, psychological distress screening instruments, and an e-learning tool specifically designed for post-test genetic counselling. These are ready-made resources that can standardize counselling quality across your network and reduce the burden of uncertain results on both staff and patients.

Frequently asked

Quick answers

What would it cost to access or license the BRIDGES risk model and tools?

The project was publicly funded with EUR 6,200,000 under Horizon 2020, so core research outputs are likely available through academic licensing. Specific commercial licensing terms would need to be negotiated with the coordinator (Academisch Ziekenhuis Leiden). The e-learning tool and patient decision aid were developed as open deliverables within the project.

Can the risk model handle the volume of a commercial genetic testing lab?

The model was built on sequencing data from 20,000 breast cancer cases, 20,000 controls, and 10,000 familial cases — a dataset large enough to power population-scale risk assessment. The online tools were designed for use by genetic counsellors across multiple EU countries, suggesting they were built for distributed clinical deployment, not just a single lab.

Who owns the intellectual property — can we license the tools?

The project was coordinated by Academisch Ziekenhuis Leiden (Leiden University Medical Center) in the Netherlands, with 18 consortium partners. IP ownership typically follows Horizon 2020 rules where each partner owns their contributions. Commercial licensing would require negotiation with the relevant IP holders in the consortium.

Does this comply with EU medical device and diagnostics regulations?

The tools were developed in a clinical genetics context across multiple EU countries and validated with real patient data. However, achieving IVD (In Vitro Diagnostic) regulatory clearance under EU MDR/IVDR would require additional steps. The validated psychological instruments (PAHC questionnaire, Distress Thermometer) were tested across EU cancer genetic clinics.

How long would integration into our existing platform take?

The project ran from 2015 to 2021 and produced 21 deliverables including online tools, an e-learning platform, and patient decision aids. These are functional tools, not just research papers. Integration timelines would depend on your platform architecture, but the risk model and interpretation tools were designed for web-based deployment.

Is the data current enough to be commercially relevant?

The project closed in August 2021, but the underlying datasets from BCAC and ENIGMA are among the largest breast cancer genetics resources globally. The risk model covers 11 breast cancer high-risk genes with data from 10 countries. The scientific foundations remain current, though the model may benefit from updates with newer variant databases.

Is there ongoing technical support or a research team we can work with?

The consortium includes 18 partners across 10 countries, with 9 universities and 5 research organizations providing deep domain expertise. The coordinator at Leiden University Medical Center is a leading cancer genetics center. Based on available project data, ongoing collaboration would need to be arranged directly with the consortium.

Consortium

Who built it

The BRIDGES consortium is large and academically heavy: 18 partners across 10 countries, dominated by 9 universities and 5 research organizations, with only 2 industry partners (11% industry ratio). This means deep scientific credibility but limited commercial translation experience within the team. The coordinator, Academisch Ziekenhuis Leiden, is a top-tier university hospital in the Netherlands with strong clinical genetics capabilities. The global spread (including Australia, Canada, and the US alongside 7 EU countries) indicates the tools were designed for international use, not just one healthcare system. For a business looking to commercialize, you would likely need to bring your own go-to-market capability and negotiate with multiple IP holders.

How to reach the team

Academisch Ziekenhuis Leiden (Leiden University Medical Center), Netherlands — clinical genetics department

Next steps

Talk to the team behind this work.

Want an introduction to the BRIDGES team to discuss licensing the risk model or clinical tools? SciTransfer can arrange a direct meeting with the right people at the consortium.

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