ScreenIng of Genetic Susceptibility Genes for Breast Cancer Patients in CHinese communiTies

NCT04265937 | Recruiting

• 1 other identifier: 1905202-3
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

Brief Summary

This is a community-based prospective study and the research object is breast cancer patients. It is planned to take the community as the unit to inform and collect the breast cancer patients who voluntarily participate to carry out the detection of BRCA1, BRCA2, PTEN, CHEK2 and PALB2 genes through the community health service center.

Conditions

Breast Cancer; Genetic Susceptibility

Outcome Measures

Primary Outcomes (1)

• The frequency of pathogenic or likely pathogenic variants of BRCA1/2 and other genetic susceptibility genes in Chinese community breast cancer population

  The frequency of pathogenic or likely pathogenic variants and 95% confidence intervals of BRCA1/2 and other genetic susceptibility genes in Chinese community breast cancer population will be measured. After stratifying according to the different clinical characteristics of the patients, chi-square tests will be use to compare the mutation rates of BRCA1/2 gene in different subgroups.

  1 year

Secondary Outcomes (2)

• Prediction model of Genetic Susceptibility Gene (BRCA1/2 etc) mutation probability

  1 year

• Breast cancer penetrance of Genetic Susceptibility Gene (BRCA1/2 etc) carriers

  1 year

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Breast cancer patients from community.

You may qualify if:

• breast cancer patients of any age;
• both male and female;
• the subjects signed the informed consent to participate in the study and abide by the study procedure before being selected.

You may not qualify if:

• healthy people or other malignant tumor patients without breast cancer;
• unable to interview the investigator and sign the informed consent due to any reason;
• it is impossible to collect peripheral blood or oral mucosa samples for any reason.

Sponsors & Collaborators

• Fudan University: lead

Study Sites (1)

Zhen Hu

Shanghai, Shanghai Municipality, 200032, China

RECRUITING

Related Publications (1)

• Yu S, Qiu X, Wang Z, Xiao J, Ji H, Shan H, Shao Q, Xia H, Cao F, Li J, Fu C, Chen L, Lu X, Su T, Yu Q, Hou S, Wang H, Zheng Y, Shao Z, Liu Y, Hu Z. Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population. Cancer Pathog Ther. 2024 Apr 17;3(2):147-153. doi: 10.1016/j.cpt.2024.04.002. eCollection 2025 Mar.

  PMID: 40182128 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood or oral mucosa samples.

MeSH Terms

Conditions

Breast Neoplasms; Genetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Zhen Hu, MD

CONTACT

86 21 64175590; zhenhu@fudan.edu.cn

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: February 8, 2020
• First Posted: February 12, 2020
• Study Start: July 1, 2019
• Primary Completion: March 31, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: May 31, 2023

Record last verified: 2023-05

Locations

CN (1)