Clinical trial NCT02608346: Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)
Official title: Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Women With BRCA1 Germline Deleterious Mutation
Keywords: Circulating tumor DNA
BRCA1 mutation
Circulating tumor cells
Lead sponsor: Institut Curie
Sponsor class: OTHER
First posted: 2015-11-18
Enrollment: 200
Sex: FEMALE
Minimum age (years): 30
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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).


Eligibility criteria: 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

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.

Primary outcomes:
measure: 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
timeFrame: Up to 42 months
measure: 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
timeFrame: Up to 42 months
Secondary outcomes:
measure: Positive predictive value for mutated TP53 ctDNA
timeFrame: Up to 42 months
measure: Negative predictive value for mutated TP53 ctDNA
timeFrame: Up to 42 months
measure: 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
timeFrame: Up to 42 months
measure: 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
timeFrame: Up to 42 months
measure: Positive predictive value for circulating tumor cells
timeFrame: Up to 42 months
measure: Negative predictive value for circulating tumor cells
timeFrame: Up to 42 months
Other outcomes:
Locations:
city: Lyon
country: France
facility: Centre Léon Bérard
city: Paris
country: France
facility: Institut Curie
city: Saint-cloud
country: France
facility: Hôpital René Huguenin - Institut Curie
city: Villejuif
country: France
facility: Institut Gustave ROUSSY
Study officials:
affiliation: Institut Curie
name: Jean-Yves PIERGA, DR
role: PRINCIPAL_INVESTIGATOR
References: