Colo-rectal CancerORIGEMNCT06917794
Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project
An observational study of Colo-rectal Cancer and Polygenic Risk Score, run by D'Or Institute for Research and Education at 9 sites in Brazil.
Trial summary
Development of a polygenic risk score based on somatic and germline genetic information from patients with colorectal cancer Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Colo-rectal Cancer, Polygenic Risk Score, Somatic Mutation
- How many people
- 500 participants
- Where
- 9 sitesBrazil
- Study dates
- 14 Mar 2025to Oct 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Of the 500 patients included, approximately 56% will be recruited from participants self-identified as brown, black, or indigenous, with the remaining percentage distributed between white and yellow. Of these individuals, at least 50% will be women, corresponding to the sex and race distribution in the Brazilian population reported in the latest IBGE census in 2022.
Who may be able to join
- > 18 years;
- Histologically confirmed diagnosis of colorectal cancer;
- Have available tumor material for somatic sequencing, obtained from biopsy or routine surgery;
- Sign the informed consent form (ICF) for the study.
Who cannot join
- Pregnants
Trial locations and contacts
9 sites in 1 country. Contact the study team or a site near you to ask about taking part.
9 sites in 1 country
Brazil9 sites
Instituto D'Or de Pesquisa e Ensino
Brasília, Federal District, 70390-140
Instituto D'Or de Pesquisa e Ensino
Curitiba, Paraná, 80420-090
Instituto D'Or de Pesquisa e Ensino
Fortaleza, Ceará, 60135-237
Instituto D'Or de Pesquisa e Ensino
Recife, Pernambuco, 52010-010
Instituto D'Or de Pesquisa e Ensino
Rio de Janeiro, Rio de Janeiro, 22281-100
CPOC - Centro de Pesquisa Oncológica e Clínica, faz parte do Complexo Associação Obras Sociais lrmã Dulce (AOSID)
Salvador, Estado de Bahia, 40414-120
Instituto D'Or de Pesquisa e Ensino
Salvador, Estado de Bahia, 40414-120
Instituto D'Or de Pesquisa e Ensino
São Paulo, São Paulo, 04.501-000
Instituto do Câncer do Estado de São Paulo
São Paulo, São Paulo, 05403-010
About this study
Development of a polygenic risk score based on somatic and germline genetic information from patients with colorectal cancer
Read the detailed description
Colorectal cancer (CRC) is the third most common cancer diagnosed in both men and women. Approximately 70% of CRC cases originate from spontaneous point mutations in oncogenes, tumor suppressor genes, and genes related to DNA repair mechanisms (Nigin et al., 2023). The remaining 30% result from hereditary mutations, of which 5-6% involve high-penetrance genes. Genetic predisposition due to pathogenic germline variants in high-risk cancer-associated genes has been implicated in 2-8% of all CRC cases, increasing to 6-10% when considering pathogenic mutations in both high- and moderate-penetrance genes.
For individuals with certain hereditary cancer syndromes, the risk of developing colorectal cancer can reach 50-80% in the absence of endoscopic and/or surgical intervention. Therefore, characterizing high-, moderate-, and low-penetrance genes within a population is crucial for understanding hereditary tumorigenesis and guiding more cost-effective screening strategies.
Genetic studies comparing genomes from populations of different ethnic backgrounds have demonstrated that ancestry plays a significant role in genetic predisposition to CRC. Given the high level of genetic admixture in the Brazilian population, studies focused solely on populations of European ancestry fail to provide a representative model for application in highly admixed populations like Brazil.
In this context, the present study aims to utilize next-generation sequencing (NGS) in a cohort representative of the Brazilian population with CRC and controls to develop a Polygenic Risk Score (PRS). This score could impact cancer screening and prevention strategies, as well as genetic counseling for patients and their families. The hypothesis is that genetic mapping-including ancestry, germline, and tumor genetic variability-in Brazilian colorectal cancer patients will provide valuable data for developing a PRS that may eventually guide more targeted and cost-effective screening strategies for our population.
- Conditions
- Colo-rectal Cancer, Polygenic Risk Score, Somatic Mutation, Hereditary Cancer, Germline Mutations, Cancer Predisposition Syndrome
- Medical subject headings
- Colonic Neoplasms, Genetic Risk Score
What is being measured
The primary outcome is the main question the study is designed to answer.
Elaboration of Poligenic Risk
A germline and somatic genetic mapping in Brazilian patients with colon adenocarcinoma, including ancestry, for the development of a polygenic risk score system applicable to the Brazilian population.
Measured: 36mo
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Apr 2025
- Study start14 Mar 2025
- Primary completionOct 2027 (estimated)
- Study completionOct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Colo-rectal CancerStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- D'Or Institute for Research and Education
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Rodrigo Santa Cruz Guindalini, D'Or Institute for Research and Education
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06917794
- Sponsor's protocol ID
- 25000.130491/2023-48 - ORIGEM
- Acronym
- ORIGEM
- Status last verified
- Apr 2025
- First submitted
- 1 Apr 2025
- Last updated
- 8 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project
- ClinicalTrials.gov ID
- NCT06917794
- Acronym / sponsor ID
- ORIGEM / 25000.130491/2023-48 - ORIGEM
- Conditions
- Colo-rectal Cancer, Polygenic Risk Score, Somatic Mutation, Hereditary Cancer, Germline Mutations, Cancer Predisposition Syndrome
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- D'Or Institute for Research and EducationUniversity, hospital or other
- Study start
- 14 Mar 2025 (actual)
- Primary completion
- Oct 2027 (estimated)
- Study completion
- Oct 2027 (estimated)
- First posted
- 8 Apr 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Development of a polygenic risk score based on somatic and germline genetic information from patients with colorectal cancer
Detailed description
Colorectal cancer (CRC) is the third most common cancer diagnosed in both men and women. Approximately 70% of CRC cases originate from spontaneous point mutations in oncogenes, tumor suppressor genes, and genes related to DNA repair mechanisms (Nigin et al., 2023). The remaining 30% result from hereditary mutations, of which 5-6% involve high-penetrance genes. Genetic predisposition due to pathogenic germline variants in high-risk cancer-associated genes has been implicated in 2-8% of all CRC cases, increasing to 6-10% when considering pathogenic mutations in both high- and moderate-penetrance genes.
For individuals with certain hereditary cancer syndromes, the risk of developing colorectal cancer can reach 50-80% in the absence of endoscopic and/or surgical intervention. Therefore, characterizing high-, moderate-, and low-penetrance genes within a population is crucial for understanding hereditary tumorigenesis and guiding more cost-effective screening strategies.
Genetic studies comparing genomes from populations of different ethnic backgrounds have demonstrated that ancestry plays a significant role in genetic predisposition to CRC. Given the high level of genetic admixture in the Brazilian population, studies focused solely on populations of European ancestry fail to provide a representative model for application in highly admixed populations like Brazil.
In this context, the present study aims to utilize next-generation sequencing (NGS) in a cohort representative of the Brazilian population with CRC and controls to develop a Polygenic Risk Score (PRS). This score could impact cancer screening and prevention strategies, as well as genetic counseling for patients and their families. The hypothesis is that genetic mapping-including ancestry, germline, and tumor genetic variability-in Brazilian colorectal cancer patients will provide valuable data for developing a PRS that may eventually guide more targeted and cost-effective screening strategies for our population.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Of the 500 patients included, approximately 56% will be recruited from participants self-identified as brown, black, or indigenous, with the remaining percentage distributed between white and yellow. Of these individuals, at least 50% will be women, corresponding to the sex and race distribution in the Brazilian population reported in the latest IBGE census in 2022.
Key inclusion criteria (4 listed)
- > 18 years;
- Histologically confirmed diagnosis of colorectal cancer;
- Have available tumor material for somatic sequencing, obtained from biopsy or routine surgery;
- Sign the informed consent form (ICF) for the study.
Key exclusion criteria (1 listed)
- Pregnants
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Elaboration of Poligenic Risk
Time frame: 36mo
A germline and somatic genetic mapping in Brazilian patients with colon adenocarcinoma, including ancestry, for the development of a polygenic risk score system applicable to the Brazilian population.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Colo-rectal Cancer and Polygenic Risk Score, run by D'Or Institute for Research and Education at 9 sites in Brazil.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 8 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in Brazil. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Elaboration of Poligenic Risk (time frame: 36mo). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Apr 2025.