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Breast Cancer Risk After Diagnostic Gene Sequencing (BRIDGEScohort2)

Primary Purpose

Genetic Predisposition to Disease

Status
Completed
Phase
Not Applicable
Locations
International
Study Type
Interventional
Intervention
BRIDGES gene panel testing
Breast cancer risk polygenic risk score (PRS)
Questionnaires
Sponsored by
Institut Curie
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional prevention trial for Genetic Predisposition to Disease focused on measuring Related women to index case, Risk estimation, Breast cancer, Ovarian cancer

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)FemaleDoes not accept healthy volunteers

Inclusion Criteria:

  1. 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) ;

    a. at Cologne University Hospital (Germany), these healthy women may also be relatives of women (index case) who received a negative non-informative test result;

  2. Who accept BRIDGES gene panel testing and the breast cancer risk PRS;
  3. Aged 18 years or over with no upper limit;
  4. Able to give informed written consent in accordance with national/local regulations and procedures;
  5. Able to understand the questionnaire language of the participating genetic clinic.

Exclusion Criteria:

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

Sites / Locations

  • Institut Curie
  • University Hospital of Cologne

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

genetic counselling

Arm Description

Genetic 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

Outcomes

Primary Outcome Measures

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.

Secondary Outcome Measures

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%).
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).
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).

Full Information

First Posted
July 18, 2019
Last Updated
January 19, 2023
Sponsor
Institut Curie
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1. Study Identification

Unique Protocol Identification Number
NCT04145817
Brief Title
Breast Cancer Risk After Diagnostic Gene Sequencing
Acronym
BRIDGEScohort2
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 Type
Interventional

2. Study Status

Record Verification Date
January 2023
Overall Recruitment Status
Completed
Study Start Date
October 22, 2019 (Actual)
Primary Completion Date
August 27, 2021 (Actual)
Study Completion Date
March 3, 2022 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Institut Curie

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief 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").
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Genetic Predisposition to Disease
Keywords
Related women to index case, Risk estimation, Breast cancer, Ovarian cancer

7. Study Design

Primary Purpose
Prevention
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
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)
Allocation
N/A
Enrollment
405 (Actual)

8. Arms, Groups, and Interventions

Arm Title
genetic counselling
Arm Type
Experimental
Arm Description
Genetic 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
Intervention Type
Genetic
Intervention Name(s)
BRIDGES gene panel testing
Intervention Description
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.
Intervention Type
Genetic
Intervention Name(s)
Breast cancer risk polygenic risk score (PRS)
Intervention Description
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.
Intervention Type
Behavioral
Intervention Name(s)
Questionnaires
Intervention Description
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,
Primary Outcome Measure Information:
Title
Psychosocial Assessment in Hereditary Cancer questionnaire (PAHC).
Description
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.
Time Frame
Up to 6 months
Secondary Outcome Measure Information:
Title
Difference on the PAHC score between counselees who receive a pathogenic variant indicating breast cancer versus (VS) who did not receive such result
Description
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%).
Time Frame
Up to 6 months
Title
Percentage of counselees intending to undertake risk reducing mastectomy (the one who received a pathogenic variant VS who did not receive such result)
Description
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).
Time Frame
Up to 6 months
Title
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)
Description
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).
Time Frame
Up to 6 months

10. Eligibility

Sex
Female
Gender Based
Yes
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria: 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) ; a. 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. Exclusion Criteria: 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Pierre FUMOLEAU, MD
Organizational Affiliation
Institut Curie
Official's Role
Study Chair
Facility Information:
Facility Name
Institut Curie
City
Paris
ZIP/Postal Code
75005
Country
France
Facility Name
University Hospital of Cologne
City
Cologne
ZIP/Postal Code
50923
Country
Germany

12. IPD Sharing Statement

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Breast Cancer Risk After Diagnostic Gene Sequencing

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