Application of CfDNA Methylation Detection in Auxiliary Diagnosis of Breast Cancer

March 12, 2025 updated by: Geneplus-Beijing Co. Ltd.

The purpose of this study is to construct an auxiliary diagnostic model for breast cancer by methylation markers. The study will collect blood and tissue samples from participants with breast cancer and benign disease for whole-genome methylation sequencing. It will screen methylation markers and develop a methylation auxiliary diagnosis model to distinguish between breast cancer and non-cancer.

Study Overview

Status

Recruiting

Conditions

Breast Cancer Screening

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

China
- Beijing
  - Beijing, Beijing, China, 100021
    - Recruiting
    - Cancer Institute and Hospital, Chinese Academy of Medical Sciences
    - Contact:
      
      Ruiqi Zhong
      
      Phone Number: +86-10-13501076800
      
      Email: 13501076800@163.com

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Adult
Older Adult

Accepts Healthy Volunteers

Sampling Method

Non-Probability Sample

Study Population

Eligible participants will be recruited from medical centers and assigned into two arms, including participants with new diagnosis of breast cancer and benign diseases.

Description

Inclusion Criteria for All the Participants:

With confirmed pathological diagnosis and molecular subtyping results
Ability to provide a written informed consent

Exclusion Criteria for Cancer Arm Participants:

Patients with a history of or currently suffering from other malignancies
Pregnant or planning to become pregnant female patients
Patients who have received cancer treatment, including surgery, chemotherapy, radiotherapy, targeted therapy, and immunotherapy, before blood draw
Patients with a history of blood transfusion within the past month
Patients with a known history of allogeneic organ transplantation and allogeneic hematopoietic stem cell transplantation
Patients with persistent fever or undergoing anti-inflammatory treatment within 14 days before blood draw
Any other conditions that the researcher deems may make the patient unsuitable for inclusion in the study or may interfere with the completion of the study
Patients in poor physical condition who are not suitable for blood draw
Patients who cannot provide informed consent or refuse blood draw

Exclusion Criteria for Benign Diseases Arm Participants:

History of malignancies
Current malignancies or precancerous lesions

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
Cancer Arm Participants with breast cancer from which a tumor tissue will be collected. Participants with new diagnosis of breast cancer from which a blood sample will be collected.
Benign Diseases Arm Participants with breast benign diseases from which a tissue will be collected. Participants with breast benign diseases from which a blood sample will be collected.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Establish DNA methylation profiles of two populations by collecting tissues and peripheral blood related to benign and malignant breast nodules. Time Frame: 12 months	12 months
Based on DNA methylation profiles, systematically evaluate the signal, noise, and complementarity of methylation biomarkers and ultimately form a set of diagnostic biomarker combinations for breast malignant nodules. Time Frame: 12 months	12 months
Further develop a methylation assisted diagnostic model that can effectively distinguish between benign and malignant breast nodules. Time Frame: 12 months	12 months

Secondary Outcome Measures

Outcome Measure	Time Frame
Evaluate the contribution and performance of methylation assisted diagnostic models by integrating imaging and methylation assisted diagnostic model results, and clarify the specificity and sensitivity of integrated model diagnosis. Time Frame: 12 months	12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Geneplus-Beijing Co. Ltd.

Collaborators

Cancer Institute and Hospital, Chinese Academy of Medical Sciences (CAMS)

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

March 15, 2025

Primary Completion (Estimated)

August 31, 2026

Study Completion (Estimated)

August 31, 2026

Study Registration Dates

First Submitted

March 7, 2025

First Submitted That Met QC Criteria

March 12, 2025

First Posted (Actual)

March 25, 2025

Study Record Updates

Last Update Posted (Actual)