Clinical trial NCT06016790: Exploring a Breast Cancer Early Screening Model Based on cfDNA
Official title: Scientific Research on Exploring a Breast Cancer Early Screening Model Using cfDNA Multi-omics Liquid Biopsy Technology Based on Deep Learning
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Breast Cancer
Breast Fibroadenoma
Breast Hypoplasia
Keywords: cfDNA
Deep learning
Lead sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University
Sponsor class: OTHER
Collaborators: name: OmixScience Institute
First posted: 2023-08-30
Enrollment: 792
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Breast cancer patients and patients with benign breast diseases.

Brief summary: The goal of this observational study is to use cfDNA multi-omics technology to explore a new breast cancer early detection model to improve the accuracy of early diagnosis in breast cancer patients. The main questions it aims to answer are:

* Evaluate the sensitivity and specificity of the early detection model for breast cancer screening
* Evaluate participants' TeFei™ score Participants will be collected peripheral venous blood before surgery or systemic treatment. The blood will then be sent to the collaboration company for sequencing. The collaboration company will analyze the sequencing results and build a cfDNA multi-omics signature library. Finally, the collaboration company will use deep learning algorithms to train and optimize the feature library.

Researchers will compare the cancer group with a benign control group to determine the model's effectiveness in differentiating between them.


Eligibility criteria: Inclusion Criteria:

1. Patients ≥18 years old and ≤70 years old;
2. Plasma of the participant can be obtained;
3. Willing to sign the informed consent;
4. Meet one of the following criteria:

4.1)Patients diagnosed with invasive breast cancer or carcinoma in situ of the breast for the first time; 4.2)Patients with breast fibroma or breast adenosis and breast fibrocystic hyperplasia;

Exclusion Criteria:

In any of the following situations, subjects should not participate in the trial:

1. Pregnant or lactating;
2. Unable to obtain the participant's plasma;
3. Patients with other types of malignant tumors diagnosed by pathology within 5 years before enrollment;
4. The patients had suspected imaging (B-ultrasound, CT, etc.) of other malignant tumors within the past 1 year after enrollment, but no pathological confirmation;
5. Received any blood product transfusion in the past 30 days;
6. Participants considered by the investigator to be inappropriate to participate in this research-type clinical trial.

Primary outcomes:
measure: Evaluate the sensitivity and specificity of the early detection model for breast cancer screening
timeFrame: 1 year from enrollment
Secondary outcomes:
measure: Evaluate participants' TeFei™ score
timeFrame: 60 days
Other outcomes:
Locations:
city: Bengbu
country: China
facility: The First Affiliated Hospital of Bengbu Medical University
state: Anhui
city: Hangzhou
country: China
facility: Affiliated Hangzhou First People's Hospital ,Westlake University School of Medicine
state: Zhejiang
city: Hangzhou
country: China
facility: Sir Run Run Shaw Hospital Affiliated With Zhejiang University School of Medicine
state: Zhejiang
city: Hangzhou
country: China
facility: Wenhui Community Health Service center, Gongshu district, Hangzhou city
state: Zhejiang
city: Hangzhou
country: China
facility: Women's Hospital School Of Medicine Zhejiang University
state: Zhejiang
city: Hangzhou
country: China
facility: Zhejiang Provincial Hospital Of Traditional Chinese Medicine
state: Zhejiang
city: Hangzhou
country: China
facility: Second Affiliated Hospital of Zhejiang University School of Medicine
state: Zhejiang
city: Ningbo
country: China
facility: Ningbo Medical Center Lihuili Hospital
state: Zhejiang
Study officials:
affiliation: Second Affiliated Hospital of Zhejiang University School of Medicine
name: Chao Ni
role: PRINCIPAL_INVESTIGATOR
References:
citation: Mathios D, Johansen JS, Cristiano S, Medina JE, Phallen J, Larsen KR, Bruhm DC, Niknafs N, Ferreira L, Adleff V, Chiao JY, Leal A, Noe M, White JR, Arun AS, Hruban C, Annapragada AV, Jensen SO, Orntoft MW, Madsen AH, Carvalho B, de Wit M, Carey J, Dracopoli NC, Maddala T, Fang KC, Hartman AR, Forde PM, Anagnostou V, Brahmer JR, Fijneman RJA, Nielsen HJ, Meijer GA, Andersen CL, Mellemgaard A, Bojesen SE, Scharpf RB, Velculescu VE. Detection and characterization of lung cancer using cell-free DNA fragmentomes. Nat Commun. 2021 Aug 20;12(1):5060. doi: 10.1038/s41467-021-24994-w.