PanCanRisk · Project

Software Tools That Predict Cancer Risk from Your DNA Sequence

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Most cancer research focuses on mutations that appear inside tumors, but some people are born with DNA variations that make them more likely to get cancer in the first place. PanCanRisk built software tools that scan a person's entire genome to find those inherited risk factors across multiple cancer types — breast, colorectal, and pancreatic cancer among them. Think of it like a spell-checker for DNA: the software flags genetic "typos" that could raise someone's cancer risk. The tools were designed to work in real clinical settings, with a cloud-based platform that hospitals and genetic testing labs can actually use.

By the numbers

consortium partners

countries involved (DE, ES, FR, UK)

total project deliverables

33%

industry partner ratio in consortium

open-source software tools released (ClinDel, ClinCNV, PeSV-Fisher)

The business problem

What needed solving

Identifying which patients carry inherited genetic risk for cancer remains difficult and expensive. Current screening methods often miss important DNA variants — especially rare ones in non-coding regions — leaving both patients and healthcare providers with incomplete risk profiles. Genetic testing labs, insurers, and pharma companies all need better tools to turn raw genome data into actionable cancer risk assessments.

The solution

What was built

The project built three open-source software tools (ClinDel, ClinCNV, PeSV-Fisher) for detecting inherited DNA variants linked to cancer, plus a cloud-based diagnostic platform called eDiVA, delivered as a proof-of-concept installation optimized for clinical genomics with secure access and intuitive interfaces. In total, the project produced 8 deliverables across bioinformatics tooling, statistical methods, and clinical data integration.

Audience

Who needs this

Clinical genomics laboratories offering hereditary cancer screening panelsPharmaceutical companies designing cancer prevention or early detection trialsHealth technology companies building genetic risk assessment platformsHospital oncology departments implementing precision medicine programsDiagnostic companies developing next-generation sequencing cancer tests

Business applications

Who can put this to work

Genetic Testing & Diagnostics

any

Target: Clinical genomics laboratories offering hereditary cancer screening

If you are a genetic testing lab dealing with the challenge of interpreting whole-genome sequencing data for cancer risk — this project developed open-source software tools (ClinDel, ClinCNV, PeSV-Fisher) that detect inherited DNA variants linked to cancer susceptibility. The cloud-based eDiVA platform was built specifically for NGS-based diagnostics in clinical settings, with secure access controls and intuitive interfaces. This could help your lab move beyond single-gene panels to comprehensive multi-cancer risk assessment.

Health Insurance & Risk Assessment

enterprise

Target: Health insurers and actuarial firms incorporating genetic risk data

If you are a health insurer looking to better understand population-level cancer risk — this project developed computational methods that integrate genomic, biomarker, and clinical data to evaluate cancer susceptibility across multiple cancer types. The tools analyze germline variation in large cohorts, enabling more accurate risk stratification. With 6 partners across 4 countries contributing to validation, the methods were tested on diverse populations.

Pharmaceutical & Oncology

enterprise

Target: Pharma companies developing targeted cancer prevention therapies

If you are a pharma company developing cancer prevention drugs and need to identify high-risk patient populations — this project built bioinformatics pipelines that discover genetic variants influencing cancer susceptibility, including variants in regulatory and intergenic regions previously missed by standard screening. The consortium produced 8 deliverables including statistical methods for variant association and eQTL analysis that can help stratify clinical trial participants by genetic risk profile.

Frequently asked

Quick answers

What would it cost to license or deploy these tools?

The key software deliverables — ClinDel, ClinCNV, and PeSV-Fisher — were released as open-source software, meaning they can be used without licensing fees. The eDiVA cloud platform was developed as a proof-of-concept installation, so deployment costs would depend on cloud infrastructure and customization needs.

Can these tools handle the volume of data in a production clinical lab?

The eDiVA platform was specifically designed as a cloud installation optimized for NGS-based diagnostics in clinical settings, with restricted access and data security built in. It supports distributed analysis of germline variation in large-scale cancer studies, suggesting it was architected for significant data volumes.

Who owns the intellectual property, and can I use it commercially?

The software tools (ClinDel, ClinCNV, PeSV-Fisher) were released as open-source, which typically allows commercial use under the license terms. The eDiVA platform and other methods were developed by a 6-partner consortium led by Fundación Pública Galega de Medicina Xenómica in Spain. Specific licensing terms should be confirmed with the coordinator.

Has this been tested in real clinical environments?

The project delivered a proof-of-concept cloud installation of eDiVA specifically optimized for clinical use, with a focus on MGTS analysis for cancer risk diagnostics. The consortium included 2 industry partners (33% industry ratio), suggesting some clinical validation pathway. However, 'proof-of-concept' indicates it has not yet reached full clinical deployment.

Which cancer types does this cover?

Based on the project data, the tools were applied to breast cancer, colorectal cancer, and pancreatic cancer, with the pan-cancer approach designed to extend across multiple cancer types. The project was part of the International Cancer Genome Consortium (ICGC) initiative, giving it access to broad cancer-genome datasets.

What regulatory approvals are needed to use this in diagnostics?

Based on available project data, the tools were developed as research and proof-of-concept platforms. Clinical deployment for diagnostics would require compliance with relevant medical device regulations (EU IVDR) and data protection standards. The eDiVA platform already includes restricted access and data security features, which is a step toward regulatory readiness.

How long would integration take?

The project ran from 2015 to 2018 and produced 8 deliverables including cloud-ready software. The open-source tools (ClinDel, ClinCNV, PeSV-Fisher) can likely be integrated into existing bioinformatics pipelines relatively quickly. The eDiVA cloud platform would require more setup as it is a standalone diagnostic environment.

Consortium

Who built it

The PanCanRisk consortium brings together 6 partners from 4 countries (Germany, Spain, France, UK), with a research-heavy composition of 4 research organizations and 2 industry partners (33% industry ratio). The project is coordinated by Fundación Pública Galega de Medicina Xenómica, a Spanish public genomic medicine foundation — not an SME, which suggests institutional stability but may mean slower commercialization pathways. The inclusion of 1 SME and 2 industry partners indicates some commercial awareness, though the consortium leans toward academic research. For a business looking to adopt these tools, the open-source release of key software is a strong signal of accessibility, but the proof-of-concept stage of the cloud platform means additional development investment would likely be needed for production deployment.

FUNDACION PUBLICA GALEGA DE MEDICINA XENOMICACoordinator · ES
EUROPEAN MOLECULAR BIOLOGY LABORATORYparticipant · DE
INSTITUT CURIEparticipant · FR
PROTEINLOGIC LIMITEDparticipant · UK
FUNDACIO CENTRE DE REGULACIO GENOMICAparticipant · ES

How to reach the team

Fundación Pública Galega de Medicina Xenómica (Spain) — contact via CORDIS project page or project website

Order a report on this consortium See FUNDACION PUBLICA GALEGA DE MEDICINA XENOMICA profile →

Next steps

Talk to the team behind this work.

Want to explore how PanCanRisk's cancer risk prediction tools could fit your diagnostic pipeline? SciTransfer can arrange a direct introduction to the research team and help evaluate commercial feasibility.

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