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Recruiting

NCT Number: NCT06792721

MEASUREMENT OF CIRCULATING MUTATION BURDEN

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

Recruiting

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Key information

Conditions

Breast Carcinoma BRCA Mutation Breast Diseases Breast Neoplasms Genetic Predisposition to Cancer Mutation Burden Neoplasms Neoplasms by Site Skin Diseases Skin and Connective Tissue Diseases cfMB

Age range

30 year–50 year

Sex eligibility

Female

Study type

Observational

Primary location

Centre François Baclesse

Caen, France

Location status: Recruiting

Location contact

Louise May THIBAUT, MD

CONTACT

[email protected]

About this study

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

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

-

Treatment and study plan

Mutation Burden cfMB analysis

Genetic

Blood samples will be collected (one time only)

Primary outcomes

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

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

    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.

Secondary outcomes

  1. Mutation profiling, COSMIC-type signature generation

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

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

  2. Identify and evaluate complementary or alternative molecular signatures

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

    Study of epigenetic biomarkers, such as circulating histone methylation

Study contacts

Contact information is provided by the study sponsor or research team.

Louise May THIBAUT, Medical Doctor

CONTACT

[email protected]

0231455050

Sponsors and collaborators

Lead sponsor

Centre Francois Baclesse

Other

Registry information

Official study title

EVALUATION OF CANCER RISK BY MEASUREMENT OF CIRCULATING MUTATIONAL BURDEN IN CARRIERS OF A GENETIC PREDISPOSITION

Acronym: cRISK

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Jan 27, 2025
Registry last updated
Jul 8, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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