Breast Cancer Risk After Diagnostic Gene Sequencing

NCT04145817 | Completed

• 1 other identifier: IC 2018-08
• Study Type: interventional
• Target: 405
• Locations: 2 countries
• Sites: 2

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").

Conditions

Genetic Predisposition to Disease

Keywords

Related women to index case; Risk estimation; Breast cancer; Ovarian cancer

Outcome Measures

Primary Outcomes (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.

  Up to 6 months

Secondary Outcomes (3)

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

  Up to 6 months

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

  Up to 6 months

• 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)

  Up to 6 months

Study Arms (1)

genetic counselling

EXPERIMENTAL

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

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

Interventions

BRIDGES gene panel testing 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.

genetic counselling

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.

genetic counselling

Questionnaires BEHAVIORAL

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,

genetic counselling

Eligibility Criteria

• Age: 18 Years+
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Institut Curie: lead

Study Sites (2)

Institut Curie

Paris, 75005, France

Location

University Hospital of Cologne

Cologne, 50923, Germany

Location

Related Publications (3)

• 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.

  PMID: 35508697 RESULT

• 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.

  PMID: 35399119 RESULT

• 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.

  PMID: 34455229 RESULT

MeSH Terms

Conditions

Genetic Predisposition to Disease; Breast Neoplasms; Ovarian Neoplasms

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Endocrine System Diseases; Gonadal Disorders

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Pierre FUMOLEAU, MD

  Institut Curie

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: PREVENTION
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Women referred to genetic counselling in the participating Cancer Genetic Clinics will be included according to the selection criteria.

Study Record Dates

• First Submitted: July 18, 2019
• First Posted: October 31, 2019
• Study Start: October 22, 2019
• Primary Completion: August 27, 2021
• Study Completion: March 3, 2022
• Last Updated: November 24, 2025

Record last verified: 2025-11

Locations

FR (1); DE (1)