Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)

Not Applicable

Completed

• Conditions: Women With BRCA1 Germline Deleterious Mutation
• Interventions: Procedure: Blood sampling

• Registration Number: NCT02608346
• Lead Sponsor: Institut Curie

Brief Summary

BRCA1 carriers who are at high risk of developing either a relapse and/or a new cancer growth will be included. These patients will be followed up during 30 months (2,5 years) with mutated TP53 mutation detection or during 42 months (3,5 years) with mutated TP53 mutation detection and circulating tumor cells detection (CTC) performed at each hospital visit (for technical reason only patients included at Institut Curie will be proposed to participate to the CTC substudy).

Detailed Description

Not available

Study Timeline

• Study Start: 2014-11
• Study First Submitted: 2015-11-16
• Study First Submitted QC: 2015-11-16
• Study First Posted: 2015-11-18
• Primary Completion: 2021-12-29
• Study Completion: 2021-12-29
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-29
• Last Update Posted: 2024-01-31

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 200

Inclusion Criteria

1. Patient with no evidence of any invasive tumor mass at inclusion (clinical and, if any, radiological exams)
2. Carriers of known germline BRCA1 deleterious mutation (a personal history of cancer is NOT mandatory).
3. Age ≥ 30 years for patient with personal previous history of cancer
4. Age ≥ 40 years for patient without personal previous history of cancer
5. Patient who a follow-up visit is scheduled in the including center at least once a year
6. Patient having health care insurance
7. Signed informed consent by patient

Read More

Exclusion Criteria

1. Patient presenting with invasive tumor masses (e.g. stage IV cancer or localized cancer not yet surgically removed)
2. Carriers of germline BRCA1 variant of unknown significance
3. Carriers of germline BRCA2 deleterious mutation or variant
4. Individuals with a low risk of BRCA1-related tumor growth, i.e. women who underwent prophylactic bilateral mastectomy AND adnexectomy.
5. Any medical or other condition that in the Investigator's opinion rendered the patient unsuitable for this study
6. Patient deprived from ability to decide on her own.
7. Patient unable to have a regular follow up for geographical, social or psychological reasons.

Read More

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Blood sampling	Blood sampling	-

Primary Outcome Measures

Name	Time	Method
Sensitivity of plasma TP53 mutation detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation	Up to 42 months	Sensitivity = % of patients with detectable levels of mutated TP53 ctDNA among those who experience a new tumor growth (relapse and/or new tumor).
Specificity of plasma TP53 mutation detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation	Up to 42 months	Specificity = % of patients with undetectable levels of mutated TP53 ctDNA among those who don't experience a new tumor growth (diagnosed within 6 months after the blood draw).

Secondary Outcome Measures

Name	Time	Method
Specificity of circulating tumor cells detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation	Up to 42 months	Specificity = % of patients with undetectable levels of circulating tumor cells among those who don't experience a new tumor growth (diagnosed within 6 months after the blood draw).
Positive predictive value for circulating tumor cells	Up to 42 months	Positive predictive value = Probability of having a tumor growth (relapse and/or new tumor) when circulating tumor cells is detectable.
Positive predictive value for mutated TP53 ctDNA	Up to 42 months	Positive predictive value = Probability of having a tumor growth (relapse and/or new tumor) when mutated TP53 ctDNA is detectable.
Sensitivity of circulating tumor cells detection as a test to detect any tumor growth (relapse and/or new tumor) during the follow-up of women known to carry BRCA1 germline mutation	Up to 42 months	Sensitivity = % of patients with detectable levels of circulating tumor cells among those who experience a new tumor growth (relapse and/or new tumor).
Negative predictive value for circulating tumor cells	Up to 42 months	Negative predictive value = Probability of being without tumor growth when circulating tumor cells is not detectable.
Negative predictive value for mutated TP53 ctDNA	Up to 42 months	Negative predictive value = Probability of being without tumor growth when mutated TP53 ctDNA is not detectable.

Trial Locations

Locations (4)

Hôpital René Huguenin - Institut Curie; 🇫🇷 Saint-cloud, France

Institut Gustave ROUSSY; 🇫🇷 Villejuif, France

Institut Curie; 🇫🇷 Paris, France

Centre Léon Bérard; 🇫🇷 Lyon, France