Clinical trial NCT04145817: Breast Cancer Risk After Diagnostic Gene Sequencing
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
Overall status: COMPLETED
Phase: NA
Conditions: Genetic Predisposition to Disease
Keywords: Related women to index case
Risk estimation
Breast cancer
Ovarian cancer
Lead sponsor: Institut Curie
Sponsor class: OTHER
First posted: 2019-10-31
Enrollment: 405
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Women referred to genetic counselling in the participating Cancer Genetic Clinics will be included according to the selection criteria.
Primary purpose: PREVENTION

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.

Eligibility criteria: 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

Primary outcomes:
measure: Psychosocial Assessment in Hereditary Cancer questionnaire (PAHC).
timeFrame: Up to 6 months
Secondary outcomes:
measure: Difference on the PAHC score between counselees who receive a pathogenic variant indicating breast cancer versus (VS) who did not receive such result
timeFrame: Up to 6 months
measure: Percentage of counselees intending to undertake risk reducing mastectomy (the one who received a pathogenic variant VS who did not receive such result)
timeFrame: Up to 6 months
measure: 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)
timeFrame: Up to 6 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Institut Curie
city: Cologne
country: Germany
facility: University Hospital of Cologne
Study officials:
affiliation: Institut Curie
name: Pierre FUMOLEAU, MD
role: STUDY_CHAIR
References: