MEASUREMENT OF CIRCULATING MUTATION BURDEN

Centre Francois Baclesse30 enrolled

Overview

Cancer-free women with a hereditary predisposition to breast and/or ovarian cancer

This proof-of-concept trial will be conducted with family members being monitored for a predisposition to breast and/or ovarian cancer linked to a BRCA1/2 gene mutation. The study will be proposed to two sisters from the same sibling: * one is a carrier of the genetic mutation * and the other not, Blood tests will evaluate the Mutation Burden cfMB

Study Type

OBSERVATIONAL

Enrollment

Conditions

Breast Carcinoma Genetic Predisposition to Cancer BRCA Mutation cfMB Mutation Burden

Interventions

Mutation Burden cfMB analysisGENETIC

Blood samples will be collected (one time only)

Eligibility

Sex: FEMALEMin age: 30 YearsMax age: 50 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Female participant * Participant undergoing oncogenetic follow-up at the Centre François Baclesse * Participant belonging to a pair of related biological siblings * Within the sibling pair, one participant is a carrier of a hereditary predisposition linked to a BRCA1/2 mutation (case), and the other participant is not a carrier (control). * Participant between 30 and 50 years of age * Participant affiliated to a social security scheme * Participant having given her consent to participate by signing an informed consent form prior to any specific study-related procedure. Exclusion Criteria: \-

Locations (1)

Centre François Baclesse

Caen, France, France

RECRUITING

Outcomes

Primary Outcomes

Comparing the mutational burden in a person genetically predisposed to cancer with that of a non-predisposed relative

Measurement and quantification of genomic signature on circulating DNA (mutational burden) derived from whole blood in a carrier of the genetic mutation and in her non-carrier first-degree relative.

Time frame: At the enrollment in the study (one point)

Secondary Outcomes

Mutation profiling, COSMIC-type signature generation

Evaluate mutational signatures on circulating free DNA (cfDNA) in correlation with hereditary predisposition linked to the BRCA1 and BRCA2 genes

Time frame: At the enrollment in the study (one point)

Identify and evaluate complementary or alternative molecular signatures

Study of epigenetic biomarkers, such as circulating histone methylation

Time frame: At the enrollment in the study (one point)

Central Contacts

Louise May THIBAUT, Medical Doctor

CONTACT

0231455050 lm.thibaut@baclesse.unicancer.fr

Data from ClinicalTrials.gov

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