Clinical trial NCT06876610: Application of CfDNA Methylation Detection in Auxiliary Diagnosis of Breast Cancer
Official title: Application of CfDNA Methylation Detection in Auxiliary Diagnosis of Breast Cancer
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Breast Cancer Screening
Lead sponsor: Geneplus-Beijing Co. Ltd.
Sponsor class: INDUSTRY
Collaborators: name: Chinese Academy of Medical Sciences
First posted: 2025-03-14
Enrollment: 200
Sex: ALL
Minimum age (years): 30
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: RETROSPECTIVE
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.

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: Establish DNA methylation profiles of two populations by collecting tissues and peripheral blood related to benign and malignant breast nodules.
timeFrame: 12 months
measure: 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.
timeFrame: 12 months
measure: Further develop a methylation assisted diagnostic model that can effectively distinguish between benign and malignant breast nodules.
timeFrame: 12 months
Secondary outcomes:
measure: 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.
timeFrame: 12 months
Other outcomes:
Locations:
city: Beijing
country: China
facility: Cancer Institute and Hospital, Chinese Academy of Medical Sciences
state: Beijing
Study officials:
References: