Breast Cancer Risk After Diagnostic Gene Sequencing (BRIDGEScohort2)

Institut Curie

Status: Completed

Conditions: Genetic Predisposition to Disease

Treatments: Genetic: BRIDGES gene panel testing; Genetic: Breast cancer risk polygenic risk score (PRS); Behavioral: Questionnaires

Study type: Interventional

Funder types: Other

Identifiers

NCT04145817

IC 2018-08

Details and patient eligibility

About

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").

Full 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.

Enrollment: 405 patients

Sex: Female

Ages: 18+ years old

Volunteers: No 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

Trial design

Primary purpose: Prevention

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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405 participants in 1 patient group

genetic counselling

Experimental group

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

Treatment:

Behavioral: Questionnaires

Genetic: Breast cancer risk polygenic risk score (PRS)

Genetic: BRIDGES gene panel testing