AzTrials
AzTrials

Genetic Predisposition to DiseaseBRIDGEScohort2NCT04145817

Breast Cancer Risk After Diagnostic Gene Sequencing

A study testing BRIDGES gene panel testing, Breast cancer risk polygenic risk score (PRS) and Questionnaires in people with Genetic Predisposition to Disease, run by Institut Curie at 2 sites in 2 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

Study of the psychological impact of breast cancer risk communication in Cancer Genetics based on the personalized estimation of the BOADICEA V5/PLUS model ("Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm-version 5 or PLUS"). Read more about this study

Who is it for?
Ages 18 years and older, women only
Conditions the study is for
Genetic Predisposition to Disease
What is being tested?
BRIDGES gene panel testing, Breast cancer risk polygenic risk score (PRS) and Questionnaires
Could I receive a placebo?
No, everyone receives an active treatment
How many people
405 participants
Where
2 sitesin 2 countries
Study dates
22 Oct 2019to 3 Mar 2022
Phase
Interventional
Are there results?
None posted in the registry

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
  • Women only
  • No healthy volunteers
  • Adult, Older adult

Who may be able to join

  • Healthy woman, relative of a family member first tested (index case) who received a positive genetic test result (presence of a BRCA1 or BRCA2 deleterious variant or a moderate-penetrance BC gene deleterious variant) ;
  • at Cologne University Hospital (Germany), these healthy women may also be relatives of women (index case) who received a negative non-informative test result;
  • Who accept BRIDGES gene panel testing and the breast cancer risk PRS;
  • Aged 18 years or over with no upper limit;
  • Able to give informed written consent in accordance with national/local regulations and procedures;
  • Able to understand the questionnaire language of the participating genetic clinic.

Who cannot join

  • Woman affected with BC, with recurrent BC, with metastatic BC, with an ovarian cancer (OC) or cancer of any other site;
  • Aged under 18 years old;
  • Unable to give informed written consent;
  • Unable to understand the questionnaire language of the participating clinic;
  • Unable to answer the questionnaire due to physical or cognitive disturbance

Trial locations and contacts

2 sites in 2 countries.

2 sites in 2 countries

France1 site

  • Institut Curie

    Paris, 75005

Other trials in France

Germany1 site

  • University Hospital of Cologne

    Cologne, 50923

Other trials in Germany

About this study

Official title: Clinical Application of the European Horizon 2020 Research Project "BRIDGES" - Study of the Psychological Impact of Breast Cancer Risk Communication in Cancer Genetics Based on the Personalized Estimation of the BOADICEA V5/PLUS Model

Study of the psychological impact of breast cancer risk communication in Cancer Genetics based on the personalized estimation of the BOADICEA V5/PLUS model ("Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm-version 5 or PLUS").

Read the detailed description

The new BC gene testing and risk estimation using BOADICEA V5/PLUS model imply an increased complexity of communication during the cancer genetic consultation. It will be proposed to women referred to genetic counselling in the participating Cancer Genetic Clinics .

New qualitative (moderate risks, secondary results) and quantitative results (variation in the degree of cancer risk identified for the counselee and family members) and thus a personalized breast cancer risk may be obtained. How this complexity affects counselees' psychological reactions is not known.

It is primarily aimed at comparing psychosocial needs and distress in healthy women (unaffected with BC) at high risk of breast or ovarian cancer undergoing genetic testing based on an enriched gene panel (index case gene panel plus PRS) at Curie Institute in France and at the University Hospital in Cologne, Germany.

Being tested
BRIDGES gene panel testing, Breast cancer risk polygenic risk score (PRS), Questionnaires
Keywords
Related women to index case, Risk estimation, Breast cancer, Ovarian cancer
Medical subject headings
Genetic Predisposition to Disease, Breast Neoplasms, Ovarian Neoplasms

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • BRIDGES gene panel testingGenetic

    The "Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm-BOADICEAV5/PLUS" predicts lifetime and age-specific breast cancer (BC) risks on the basis of family history, all known BC genes test-results, common single nucleotide polymorphisms (SNPs) combined in a PRS, and other non-genetic risk factors. This model is developed within the BRIDGES consortium.

  • Breast cancer risk polygenic risk score (PRS)Genetic

    The "Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm-BOADICEAV5/PLUS" predicts lifetime and age-specific breast cancer (BC) risks on the basis of family history, all known BC genes test-results, common single nucleotide polymorphisms (SNPs) combined in a PRS, and other non-genetic risk factors. This model is developed within the BRIDGES consortium.

  • QuestionnairesBehavioural

    Self-administered questionnaires for counselees to evaluate Psychosocial Aspects of Hereditary Cancer (PAHC), Breast Cancer risk perception adequacy, risk communication within the family and cancer risk management choice,

Study groups in NCT04145817
Study groupRoleWhat they receive
genetic counsellingExperimentalGenetic counselling (PRS for risk estimation) and questionnaires in the participating Cancer Genetic Clinics for healthy woman relative of a person first tested in the family (index case) who received a positive genetic test result or a negative non-informative test result
Receives: Genetic: BRIDGES gene panel testing; Genetic: Breast cancer risk polygenic risk score (PRS); Behavioral: Questionnaires

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Psychosocial Assessment in Hereditary Cancer questionnaire (PAHC).

    Breast or ovarian cancer risk perception (the impact of communicating a personalized breast cancer risk using the BOADICEAV5/PLUS model) using a PAHC questionnaire. Questionnaire items are responded on a 4-level scale from 1 (Not at all) to 4 (Very much). Item response scores are averaged and standardized on a 0 to 100 scale, with an increased value indication more severe difficulties.

    Measured: Up to 6 months

Secondary outcomes (3)

  1. Difference on the PAHC score between counselees who receive a pathogenic variant indicating breast cancer versus (VS) who did not receive such result

    Counselee's perceived lifetime risks of developing (a first or second) BC will be measured at T2 in words (Not concerned, Don't know, Low risk, Low to moderate risk, Moderate risk, High risk, Very high risk, Major Risk) and in figures (Not concerned, Don't know, 0-10%; between 11-20%, 21-40%, 41-60%, 61-80% and over 80%).

    Measured: Up to 6 months

  2. Percentage of counselees intending to undertake risk reducing mastectomy (the one who received a pathogenic variant VS who did not receive such result)

    Counselees' choice of cancer risk management will be assessed using a study-specific self-administered questionnaire based on the literature [Julian-Reynier, 2010] asking about women's intention or choice to undergo regular mammography, regular breast ultrasound, MRI or preventive mastectomy on a 6-option response scale (Yes, certainly; Yes, probably; I don't know; No, probably not; No, certainly not; Not concerned).

    Measured: Up to 6 months

  3. Percentage of counselees who communicate their result to their sister(s) (the one who received a pathogenic variant VS who did not receive such result)

    It will be assessed using a study-specific self-administered questionnaire based on the literature [de Geus, 2015] asking about women's whether they informed about genetic testing among her husband/partner, children, mother, father, sister(s), brother(s), friend(s) or other family member(s) using a 4, 5 or 5-option response scale depending on the person (Yes, I informed him/her/them; No, but I plan to do it; No (no partner); No; Yes all of them; Yes, some of them; No (children too young); No (no children/brother/sister); No (mother/father deceased).

    Measured: Up to 6 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted31 Oct 2019
  2. Study start22 Oct 2019
  3. Primary completion27 Aug 2021
  4. Study completion3 Mar 2022

Resources

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
Model description
Women referred to genetic counselling in the participating Cancer Genetic Clinics will be included according to the selection criteria.
Masking
None (open label)
Enrolment
405 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04145817
Sponsor's protocol ID
IC 2018-08
Acronym
BRIDGEScohort2
Status last verified
Nov 2025
First submitted
18 Jul 2019
Last updated
24 Nov 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No

Publications

  • Bredart A, De Pauw A, Tuchler A, Lakeman IMM, Anota A, Rhiem K, Schmutzler R, van Asperen CJ, Devilee P, Stoppa-Lyonnet D, Kop JL, Dolbeault S. Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study. Clin Genet. 2022 Jul;102(1):30-39. doi: 10.1111/cge.14147. Epub 2022 May 16.

    PubMed 35508697

  • Bredart A, Kop JL, Tuchler A, De Pauw A, Cano A, Dick J, Rhiem K, Devilee P, Schmutzler R, Stoppa-Lyonnet D, Dolbeault S. Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective study. Eur J Hum Genet. 2022 Sep;30(9):1067-1075. doi: 10.1038/s41431-022-01096-9. Epub 2022 Apr 11.

    PubMed 35399119

  • Bredart A, De Pauw A, Anota A, Tuchler A, Dick J, Muller A, Kop JL, Rhiem K, Schmutzler R, Devilee P, Stoppa-Lyonnet D, Dolbeault S. Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant. Breast. 2021 Dec;60:38-44. doi: 10.1016/j.breast.2021.08.011. Epub 2021 Aug 23.

    PubMed 34455229

Questions about this trial

What is this clinical trial studying?

A study testing BRIDGES gene panel testing, Breast cancer risk polygenic risk score (PRS) and Questionnaires in people with Genetic Predisposition to Disease, run by Institut Curie at 2 sites in 2 countries.

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 6 inclusion and 5 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: finished, as of the sponsor's last update on 24 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites in France, Germany. 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?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

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?

Psychosocial Assessment in Hereditary Cancer questionnaire (PAHC). (time frame: Up to 6 months). 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 NCT04145817, which also lists 3 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 24 Nov 2025.

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