Breast CancerMIGNCT06922708
Implementing Polygenic Risk Scores for Breast Cancer Prevention: a Feasibility Study
A study testing Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment in people with Breast Cancer, run by Catholic University of the Sacred Heart at 1 site in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 79 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Breast Cancer
- What is being tested?
- Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteItaly
- Study dates
- 6 Jun 2025to 30 Nov 2026
- Phase
- Interventional
- 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 to 79 years
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Ability to provide informed consent
- Voluntary consent to participate
- Estimated risk of carrying an inherited pathogenic variant (in BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1) > 5%, (calculated on www.canrisk.org)
- Healthy women with:
- Known family history of breast cancer, or
- Known familiarity with carriers of pathogenic variants for genes included in the CanRisk model (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1), or
Show all 10Show fewer
- Known carriers of pathogenic variants for genes included in the CanRisk model (BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1)
- Affected women with:
- Diagnosis of unilateral breast cancer
- Personal history of ovarian cancer
Who cannot join
- Diagnosis or history of bilateral breast cancer
- Diagnosis of ductal carcinoma in situ
- Previous bilateral mastectomy
- Life expectancy < 12 months due to other medical conditions
- Participation in interventional clinical trials for breast cancer prevention in the last 12 months
- Carriers or relatives of carriers of pathogenic variants in genes not included in the CanRisk model (genes other than BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1)
- Inability to provide informed consent
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Francesco A Causio, MD contact
Italy1 site, 1 recruiting
- Recruiting
Policlinico Universitario Fondazione Agostino Gemelli
Roma
Sara Farina, MD, 063015, sara.farina@unicatt.it
About this study
Official title: Implementing Polygenic Risk Scores for Breast Cancer Prevention: Protocol for a Feasibility Study in a Real-world Clinical Setting
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.
Read the detailed description
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:
- Uptake of CanRisk+PRS pathway
- Risk understanding and emotional impact, assessed using a validated questionnaire (Woof et al.)
- Risk reclassification rate, after PRS integration in the CanRisk model assessment
- Changes in breast cancer preventive pathway, recommended following multidisciplinary evaluation after CanRisk+PRS-based risk reclassification
- Impact on overall distribution across risk categories after PRS integration
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.
- Conditions
- Breast Cancer
- Being tested
- Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment
- Keywords
- breast cancer, risk stratification, polygenic risk score, CanRisk model, feasibility study, personalized prevention
- Medical subject headings
- Breast Neoplasms, Genetic Risk Score
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessmentGenetic
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.).
| Study group | Role | What they receive |
|---|---|---|
| Integrated PRS-enhanced breast cancer risk assessment | Experimental | Women attending a Medical Genetics Clinic for breast cancer risk assessment, all undergoing CanRisk evaluation with and without PRS, without allocation to different interventions. Receives: Genetic: Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: At 12 months from enrollment
Secondary outcomes (6)
Uptake of CanRisk+PRS integrated pathway
Proportion of women accepting PRS testing among those offered:
(Number accepting PRS / Number offered PRS) × 100
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: At month 12.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2025
- Study start6 Jun 2025
- Primary completion30 Sep 2026 (estimated)
- Study completion30 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (14)Papers the sponsor has linked to this study.
- Other trials for Breast 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Catholic University of the Sacred Heart
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Stefania Boccia, Catholic University of the Sacred Heart
- Investigators
- Stefania Boccia, Phd, Principal investigator, Life Sciences and Public Health Department, Università Cattolica del Sacro Cuore, Rome, Italy
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06922708
- Sponsor's protocol ID
- 7310
- Other IDs
- No. D.D. 931
- Acronym
- MIG
- Status last verified
- Apr 2026
- First submitted
- 27 Mar 2025
- Last updated
- 3 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Publications
Vanhaecht K, De Witte K, Depreitere R, Van Zelm R, De Bleser L, Proost K, Sermeus W. Development and validation of a care process self-evaluation tool. Health Serv Manage Res. 2007 Aug;20(3):189-202. doi: 10.1258/095148407781395964.
PubMed 17683658Du Z, Gao G, Adedokun B, Ahearn T, Lunetta KL, Zirpoli G, Troester MA, Ruiz-Narvaez EA, Haddad SA, PalChoudhury P, Figueroa J, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Mancuso N, Press MF, Deming SL, Rodriguez-Gil JL, Yao S, Ogundiran TO, Ojengbe O, Bolla MK, Dennis J, Dunning AM, Easton DF, Michailidou K, Pharoah PDP, Sandler DP, Taylor JA, Wang Q, Weinberg CR, Kitahara CM, Blot W, Nathanson KL, Hennis A, Nemesure B, Ambs S, Sucheston-Campbell LE, Bensen JT, Chanock SJ, Olshan AF, Ambrosone CB, Olopade OI, Yarney J, Awuah B, Wiafe-Addai B, Conti DV; GBHS Study Team; Palmer JR, Garcia-Closas M, Huo D, Haiman CA. Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry. J Natl Cancer Inst. 2021 Sep 4;113(9):1168-1176. doi: 10.1093/jnci/djab050.
PubMed 33769540Lakeman IMM, Rodriguez-Girondo M, Lee A, Ruiter R, Stricker BH, Wijnant SRA, Kavousi M, Antoniou AC, Schmidt MK, Uitterlinden AG, van Rooij J, Devilee P. Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort. Genet Med. 2020 Nov;22(11):1803-1811. doi: 10.1038/s41436-020-0884-4. Epub 2020 Jul 6.
PubMed 32624571Archer S, Donoso FS, Carver T, Yue A, Cunningham AP, Ficorella L, Tischkowitz M, Easton DF, Antoniou AC, Emery J, Usher-Smith J, Walter FM. Exploring the barriers to and facilitators of implementing CanRisk in primary care: a qualitative thematic framework analysis. Br J Gen Pract. 2023 Jul 27;73(733):e586-e596. doi: 10.3399/BJGP.2022.0643. Print 2023 Aug.
PubMed 37308304Vassy JL, Brunette CA, Lebo MS, MacIsaac K, Yi T, Danowski ME, Alexander NVJ, Cardellino MP, Christensen KD, Gala M, Green RC, Harris E, Jones NE, Kerman BJ, Kraft P, Kulkarni P, Lewis ACF, Lubitz SA, Natarajan P, Antwi AA. The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care. Am J Hum Genet. 2023 Nov 2;110(11):1841-1852. doi: 10.1016/j.ajhg.2023.10.001.
PubMed 37922883Tsoulaki O, Tischkowitz M, Antoniou AC, Musgrave H, Rea G, Gandhi A, Cox K, Irvine T, Holcombe S, Eccles D, Turnbull C, Cutress R; Meeting Attendees; Archer S, Hanson H. Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice. Br J Cancer. 2024 Jun;130(12):2027-2036. doi: 10.1038/s41416-024-02733-4. Epub 2024 Jun 4.
PubMed 38834743Mbuya-Bienge C, Pashayan N, Kazemali CD, Lapointe J, Simard J, Nabi H. A Systematic Review and Critical Assessment of Breast Cancer Risk Prediction Tools Incorporating a Polygenic Risk Score for the General Population. Cancers (Basel). 2023 Nov 12;15(22):5380. doi: 10.3390/cancers15225380.
PubMed 38001640Hovhannisyan M, Zemankova P, Nehasil P, Matejkova K, Borecka M, Cerna M, Dolezalova T, Dvorakova L, Foretova L, Horackova K, Jelinkova S, Just P, Kalousova M, Kral J, Machackova E, Nemcova B, Safarikova M, Springer D, Stastna B, Tavandzis S, Vocka M, Zima T, Soukupova J, Kleiblova P, Ernst C, Kleibl Z, Janatova M. Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction. Cancer. 2024 Sep 1;130(17):2978-2987. doi: 10.1002/cncr.35337. Epub 2024 May 8.
PubMed 38718029Yang X, Eriksson M, Czene K, Lee A, Leslie G, Lush M, Wang J, Dennis J, Dorling L, Carvalho S, Mavaddat N, Simard J, Schmidt MK, Easton DF, Hall P, Antoniou AC. Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study. J Med Genet. 2022 Dec;59(12):1196-1205. doi: 10.1136/jmg-2022-108806. Epub 2022 Sep 26.
PubMed 36162852Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med. 2019 Aug;21(8):1708-1718. doi: 10.1038/s41436-018-0406-9. Epub 2019 Jan 15.
PubMed 30643217Qaseem A, Lin JS, Mustafa RA, Horwitch CA, Wilt TJ; Clinical Guidelines Committee of the American College of Physicians; Forciea MA, Fitterman N, Iorio A, Kansagara D, Maroto M, McLean RM, Tufte JE, Vijan S. Screening for Breast Cancer in Average-Risk Women: A Guidance Statement From the American College of Physicians. Ann Intern Med. 2019 Apr 16;170(8):547-560. doi: 10.7326/M18-2147. Epub 2019 Apr 9.
PubMed 30959525Canelo-Aybar C, Posso M, Montero N, Sola I, Saz-Parkinson Z, Duffy SW, Follmann M, Grawingholt A, Giorgi Rossi P, Alonso-Coello P. Benefits and harms of annual, biennial, or triennial breast cancer mammography screening for women at average risk of breast cancer: a systematic review for the European Commission Initiative on Breast Cancer (ECIBC). Br J Cancer. 2022 Mar;126(4):673-688. doi: 10.1038/s41416-021-01521-8. Epub 2021 Nov 26.
PubMed 34837076Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, Bray F. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin. 2021 May;71(3):209-249. doi: 10.3322/caac.21660. Epub 2021 Feb 4.
PubMed 33538338Visvanathan K. USPSTF recommends biennial mammography for breast cancer screening in women aged 40 to 74 y. Ann Intern Med. 2024 Oct;177(10):JC110. doi: 10.7326/ANNALS-24-02229-JC. Epub 2024 Oct 1.
PubMed 39348703
Study at a glance
From the registry record, last updated by the sponsor on 3 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Implementing Polygenic Risk Scores for Breast Cancer Prevention: Protocol for a Feasibility Study in a Real-world Clinical Setting
- ClinicalTrials.gov ID
- NCT06922708
- Acronym / sponsor ID
- MIG / 7310
- Conditions
- Breast Cancer
- Keywords
- breast cancer, risk stratification, polygenic risk score, CanRisk model, feasibility study, personalized prevention
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Catholic University of the Sacred HeartUniversity, hospital or other
- Study start
- 6 Jun 2025 (actual)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 30 Nov 2026 (estimated)
- First posted
- 10 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.
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.
Detailed description
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:
- Uptake of CanRisk+PRS pathway
- Risk understanding and emotional impact, assessed using a validated questionnaire (Woof et al.)
- Risk reclassification rate, after PRS integration in the CanRisk model assessment
- Changes in breast cancer preventive pathway, recommended following multidisciplinary evaluation after CanRisk+PRS-based risk reclassification
- Impact on overall distribution across risk categories after PRS integration
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.
Study design
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Integrated PRS-enhanced breast cancer risk assessment | Experimental | Genetic: Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessmentWomen attending a Medical Genetics Clinic for breast cancer risk assessment, all undergoing CanRisk evaluation with and without PRS, without allocation to different interventions. |
Who may qualify
- Ages
- 18 to 79 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (10 listed)
- Ability to provide informed consent
- Voluntary consent to participate
- Estimated risk of carrying an inherited pathogenic variant (in BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51D, RAD51C, BARD1) > 5%, (calculated on www.canrisk.org)
- Healthy women with:
- Affected women with:
Key exclusion criteria (7 listed)
- Diagnosis or history of bilateral breast cancer
- Diagnosis of ductal carcinoma in situ
- Previous bilateral mastectomy
- Life expectancy < 12 months due to other medical conditions
- Participation in interventional clinical trials for breast cancer prevention in the last 12 months
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessmentStandard 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.). | Genetic | Integrated PRS-enhanced breast cancer risk assessment |
Primary outcome
Feasibility of implementing an integrated clinical pathway including PRS
Time frame: At 12 months from enrollment
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.
6 secondary outcomes
Uptake of CanRisk+PRS integrated pathway
Time frame: At the time of enrollment, when eligible participants are offered PRS testing
Proportion of women requesting their individual CanRisk+PRS result
Time frame: At month 12.
Percentage of women reclassified into different risk categories after PRS integration
Time frame: At month 12
Proportion of women with modified prevention pathways after PRS-informed reclassification
Time frame: At month 12.
Perception of risk and psychological impact
Time frame: At month 12
Global redistribution of risk categories after PRS integration
Time frame: At month 12.
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 3 Aug 2026.
- Background: PubMed 17683658Vanhaecht K, De Witte K, Depreitere R, Van Zelm R, De Bleser L, Proost K, Sermeus W. Development and validation of a care process self-evaluation tool. Health Serv Manage Res. 2007 Aug;20(3):189-202. doi: 10.1258/095148407781395964.
- Background: PubMed 33769540Du Z, Gao G, Adedokun B, Ahearn T, Lunetta KL, Zirpoli G, Troester MA, Ruiz-Narvaez EA, Haddad SA, PalChoudhury P, Figueroa J, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Mancuso N, Press MF, Deming SL, Rodriguez-Gil JL, Yao S, Ogundiran TO, Ojengbe O, Bolla MK, Dennis J, Dunning AM, Easton DF, Michailidou K, Pharoah PDP, Sandler DP, Taylor JA, Wang Q, Weinberg CR, Kitahara CM, Blot W, Nathanson KL, Hennis A, Nemesure B, Ambs S, Sucheston-Campbell LE, Bensen JT, Chanock SJ, Olshan AF, Ambrosone CB, Olopade OI, Yarney J, Awuah B, Wiafe-Addai B, Conti DV; GBHS Study Team; Palmer JR, Garcia-Closas M, Huo D, Haiman CA. Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry. J Natl Cancer Inst. 2021 Sep 4;113(9):1168-1176. doi: 10.1093/jnci/djab050.
- Background: PubMed 32624571Lakeman IMM, Rodriguez-Girondo M, Lee A, Ruiter R, Stricker BH, Wijnant SRA, Kavousi M, Antoniou AC, Schmidt MK, Uitterlinden AG, van Rooij J, Devilee P. Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort. Genet Med. 2020 Nov;22(11):1803-1811. doi: 10.1038/s41436-020-0884-4. Epub 2020 Jul 6.
- Background: PubMed 37308304Archer S, Donoso FS, Carver T, Yue A, Cunningham AP, Ficorella L, Tischkowitz M, Easton DF, Antoniou AC, Emery J, Usher-Smith J, Walter FM. Exploring the barriers to and facilitators of implementing CanRisk in primary care: a qualitative thematic framework analysis. Br J Gen Pract. 2023 Jul 27;73(733):e586-e596. doi: 10.3399/BJGP.2022.0643. Print 2023 Aug.
- Background: PubMed 37922883Vassy JL, Brunette CA, Lebo MS, MacIsaac K, Yi T, Danowski ME, Alexander NVJ, Cardellino MP, Christensen KD, Gala M, Green RC, Harris E, Jones NE, Kerman BJ, Kraft P, Kulkarni P, Lewis ACF, Lubitz SA, Natarajan P, Antwi AA. The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care. Am J Hum Genet. 2023 Nov 2;110(11):1841-1852. doi: 10.1016/j.ajhg.2023.10.001.
- Background: PubMed 38834743Tsoulaki O, Tischkowitz M, Antoniou AC, Musgrave H, Rea G, Gandhi A, Cox K, Irvine T, Holcombe S, Eccles D, Turnbull C, Cutress R; Meeting Attendees; Archer S, Hanson H. Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice. Br J Cancer. 2024 Jun;130(12):2027-2036. doi: 10.1038/s41416-024-02733-4. Epub 2024 Jun 4.
- Background: PubMed 38001640Mbuya-Bienge C, Pashayan N, Kazemali CD, Lapointe J, Simard J, Nabi H. A Systematic Review and Critical Assessment of Breast Cancer Risk Prediction Tools Incorporating a Polygenic Risk Score for the General Population. Cancers (Basel). 2023 Nov 12;15(22):5380. doi: 10.3390/cancers15225380.
- Background: PubMed 38718029Hovhannisyan M, Zemankova P, Nehasil P, Matejkova K, Borecka M, Cerna M, Dolezalova T, Dvorakova L, Foretova L, Horackova K, Jelinkova S, Just P, Kalousova M, Kral J, Machackova E, Nemcova B, Safarikova M, Springer D, Stastna B, Tavandzis S, Vocka M, Zima T, Soukupova J, Kleiblova P, Ernst C, Kleibl Z, Janatova M. Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction. Cancer. 2024 Sep 1;130(17):2978-2987. doi: 10.1002/cncr.35337. Epub 2024 May 8.
- Background: PubMed 36162852Yang X, Eriksson M, Czene K, Lee A, Leslie G, Lush M, Wang J, Dennis J, Dorling L, Carvalho S, Mavaddat N, Simard J, Schmidt MK, Easton DF, Hall P, Antoniou AC. Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study. J Med Genet. 2022 Dec;59(12):1196-1205. doi: 10.1136/jmg-2022-108806. Epub 2022 Sep 26.
- Background: PubMed 30643217Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genet Med. 2019 Aug;21(8):1708-1718. doi: 10.1038/s41436-018-0406-9. Epub 2019 Jan 15.
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- This website provides the calculator of the CanRisk scoreLink provided by the sponsor.
- Individual participant dataSharing planned: 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.
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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.
Francesco A Causio, MD contact
Stefania Boccia, Phd principal investigator
Life Sciences and Public Health Department, Università Cattolica del Sacro Cuore, Rome, Italy
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Clinical pathway for breast cancer prevention based on PRS-integrated CanRisk assessment in people with Breast Cancer, run by Catholic University of the Sacred Heart at 1 site in Italy.
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 10 inclusion and 7 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: looking for participants now, as of the sponsor's last update on 3 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. 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?
Contact Sara Farina, MD (0039 + 0630156808, sarafarins96@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Feasibility of implementing an integrated clinical pathway including PRS (time frame: At 12 months from enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06922708, which also lists 14 linked publications.
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 3 Aug 2026.