Clinical trial · Observational
Sequencing to Identify Gene Variants in Familial Colorectal Cancer
Exom-sekvensering for å Identifisere høyrisiko Genvarianter i en Familie Predisponert for Colorectal Cancer
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The project will use exome sequencing to search for genetic predispositions for familial colorectal cancer (CRC). Except for certain syndromes there is today no good method for identifying individuals with a hereditary high risk for CRC (about 25% of the cases). There is currently no routine screening of the population in Norway for CRC today. Coloscopy, which is the most reliable method, is demanding with respect to resources, it can be painful, and may have complications. This project will attempt to find genetic determinants for identification of individuals with increased risk for familial CRC. Such methods will reduce unnecessary medical examination of unaffected family members, and will make it easier to focus health services on individuals with increased risk. This will represent a significant contribution towards improved health reduced death rate caused by CRC. The project includes research on the ethical aspects, in particular challenges related to how feedback to donors is handled.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Colorectal Cancer | Malignant Colorectal Neoplasm | CURATED_BROADER | 0.80 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| gene sequencing | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- CRC high risk
- description
- Participants belong to a family with increased risk for CRC, will be analyzed with gene sequencing
- interventionNames
- Genetic: gene sequencing
Primary outcomes (1)
- measure
- Data on association between sequence variants in exons and CRC risk
- timeFrame
- Data available within 18 months after recruitment completed
- description
- For each participant the genome will be analyzed by exome capture and high throughput sequencing. The exome data will be compared between participants and to reference data for identification of unique variants that can be associated with disease risk.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 20 Years
Show eligibility criteria text
Inclusion Criteria: * Member of a specific family with increased risk of CRC, including individuals both with and without CRC Exclusion Criteria: * Young age
References
Publications (1)
- RESULTHansen MF, Johansen J, Bjornevoll I, Sylvander AE, Steinsbekk KS, Saetrom P, Sandvik AK, Drablos F, Sjursen W. A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. Fam Cancer. 2015 Sep;14(3):437-48. doi: 10.1007/s10689-015-9803-2. PMID 25860647