An interventional study of Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment in Breast Cancer, sponsored by Catholic University of the Sacred Heart. Recruiting at 1 site in Italy. Open to female participants aged 18 Years to 79 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-08-03.
Sponsored by Catholic University of the Sacred Heart · Not applicable, Interventional, and Prevention
This single-arm interventional feasibility study will evaluate whether integrating polygenic risk scores (PRS) into the CanRisk model can improve breast cancer risk prediction and personalized prevention in women at risk of breast cancer. The study will assess the organizational feasibility, patient acceptance, emotional impact and satisfaction of an integrated pathway combining PRS testing with standard genetic counseling and other risk factors at Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
This study will test the feasibility of integrating polygenic risk scores (PRS) into the CanRisk breast cancer risk model in a real-world clinical setting at Fondazione Policlinico Universitario Agostino Gemelli IRCCS. By embedding PRS testing into routine genetic counseling and patient care, the study aims to examine organizational, logistical, and patient-centered aspects of incorporating genomic data into breast cancer risk assessment.
Eligible participants include women with a family history of breast cancer, carriers of pathogenic variants included in CanRisk (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1), and women with unilateral breast cancer for controlateral risk assessment. Carriers of pathogenic variants not included in CanRisk (e.g., PTEN, TP53, CDH1) as well as women with bilateral breast cancer or ductal carcinoma in situ (DCIS), will be excluded, as CanRisk does not estimate risk for this condition.
All participants will provide a blood sample (9 mL in three K2EDTA tubes) for DNA extraction and SNP genotyping. PRS will be calculated using a 313-SNP array with ThermoFisher GeneTitan and the Axiom Precision Medicine Diversity Array, followed by standard quality control and genotype imputation. Results will be integrated into the CanRisk model previously calculated without PRS, to provide individualized risk estimates, in combination with clinical, anthropometric, and family history variables systematically collected for every participant.
Participants who request their CanRisk with PRS results will receive an email report approximately within one month of sample collection, summarizing their CanRisk estimates with and without PRS, and will be invited to complete a questionnaire on comprehension, perception, and emotional impact of the result. If the PRS leads to a change in risk classification, the case will be reviewed in a multidisciplinary discussion and the prevention plan may be modified accordingly. Participants who accept to be enrolled in the study but decline to receive their PRS results will be asked their reason, which will be documented verbatim.
Primary outcome:
Feasibility of CanRisk+PRS pathway assessment, measured by a 27-item Care Process Self-Evaluation Tool (CPSET) validated questionnaire, completed by both participants and healthcare staff at the end of the study.
Secondary outcomes:
This study will generate evidence on the clinical, technical, and organizational feasibility of integrating PRS into breast cancer risk assessment, informing the future implementation of personalized prevention programs.
14,825 studies on the registry are indexed under Breast Neoplasms; 3,319 are open to participants now.
This study's planned enrollment of 100 is above the median of 72 across 10,896 interventional studies indexed under Breast Neoplasms.
Browse Breast Neoplasms studies →Catholic University of the Sacred Heart is the lead sponsor of 237 studies on the registry; 29 are open to participants now.
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Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Healthy women with:
Affected women with:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
The study doctor’s estimate of how long someone is likely to live. Criteria use it so that people can stay in the study long enough for it to answer its question.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Life expectancy
The study doctor’s estimate of how long someone is likely to live. Criteria use it so that people can stay in the study long enough for it to answer its question.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Women attending a Medical Genetics Clinic for breast cancer risk assessment, all undergoing CanRisk evaluation with and without PRS, without allocation to different interventions.
Genetic: Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment
Standard genetic counseling followed by a blood draw (0.5 mL) for DNA extraction. The sample is processed using a high-throughput SNP genotyping platform, and the PRS, based on 313 SNPs, is calculated and integrated into the CanRisk model for refined breast cancer risk stratification. In conjunction with result disclosure, participants complete structured questionnaires to assess psychological impact and risk comprehension (questionnaire by Woof et al.). At the end of the study, both participants and healthcare professionals complete feasibility questionnaires to evaluate the implementation of the PRS-integrated clinical pathway (Care Process Self-Evaluation Tool, CPSET; Vanhaecht et al.).
Feasibility of implementing an integrated clinical pathway including PRS
The primary outcome is the feasibility of integrating polygenic risk score (PRS) testing into the CanRisk breast cancer risk model within a structured clinical pathway. Feasibility will be assessed using the Care Process Self-Evaluation Tool (CPSET), that includes 27 items across 5 domains: patient-centeredness, coordination of care, communication, cooperation, and monitoring/follow-up. The questionnaire will be administered at the end of the study to both enrolled women and involved healthcare professionals.
Time frame: At 12 months from enrollment
Uptake of CanRisk+PRS integrated pathway
Proportion of women accepting PRS testing among those offered: (Number accepting PRS / Number offered PRS) × 100
Time frame: At the time of enrollment, when eligible participants are offered PRS testing
Proportion of women requesting their individual CanRisk+PRS result
The percentage of enrolled women who actively request to receive their individualized breast cancer risk estimate generated by the CanRisk model integrated with PRS. This outcome will measure the degree of patient interest in receiving personalized genomic risk information.
Time frame: At month 12.
Percentage of women reclassified into different risk categories after PRS integration
The percentage of women whose risk category (low, moderate, or high) changes when PRS information is added to their baseline CanRisk estimate. This outcome will assess the clinical utility of PRS in refining breast cancer risk stratification and identifying women who may benefit from adjusted preventive strategies.
Time frame: At month 12
Proportion of women with modified prevention pathways after PRS-informed reclassification
The percentage of women whose preventive or follow-up pathway is modified following a multidisciplinary team review prompted by PRS-informed risk reclassification. This outcome will capture the practical impact of PRS integration on clinical decision-making and preventive care planning.
Time frame: At month 12.
Perception of risk and psychological impact
Evaluation of women's understanding and perception of their personal breast cancer risk, as well as the emotional and psychological impact of risk communication, after receiving their CanRisk+PRS result. This will be assessed using the validated questionnaire by Woof et al., which specifically measures comprehension of risk estimates and associated emotional responses.
Time frame: At month 12
Global redistribution of risk categories after PRS integration
The overall distribution of women across predefined breast cancer risk categories (low, moderate, high) before and after incorporating PRS into CanRisk. This outcome will provide a population-level view of how PRS influences breast cancer risk stratification and the extent of shifts in the global risk profile of the cohort.
Time frame: At month 12.
Plan to share: Yes — All de-identified individual participant data (IPD) that underlie the published results of the study will be shared. This includes baseline demographics, clinical assessments, PRS test results (based on 313 SNPs), and questionnaire responses. Data will be made available via a secure Figshare repository upon study completion, with access governed by standard data use agreements to ensure participant confidentiality.
Supporting information: Study protocol, Statistical analysis plan, Informed consent form
Time frame: After publication of the study results and will remain available indefinitely.
Access criteria: Researchers wishing to access the de-identified individual participant data (IPD) and supporting documentation must submit a formal request that includes a research proposal outlining the planned analyses and justification for data use. All requests will be reviewed by the study's Data Access Committee to ensure that the proposed research meets ethical and scientific criteria. A data sharing agreement, detailing the conditions for data use and protecting participant confidentiality, must be signed before access is granted. Detailed submission instructions and contact information will be provided on the secure repository platform.
Started Jun 2025 (actual). Primary completion is estimated for Sep 2026, 15 months after the start.
Of 2,661 non-industry interventional studies with no phase under Breast Neoplasms, half reached primary completion within 33 months of starting (the median), counting those still running; a quarter within 16 and three quarters within 66. This study's planned 15 months is below that.
Counting every sponsor, half of 2,771 studies reached it within 33 months; a quarter within 15 and three quarters within 66.
How these figures are worked out, and which studies are left out of them.
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