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

Breast Cancer Clinical Trial

— SIGHT  

Official title:

Screening of Genetic Susceptibility Genes for Breast Cancer Patients and Establishment of High-risk Populations in Chinese Communities

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04265937
• Other study ID #: 1905202-3
• Status: Recruiting
• Start date: July 1, 2019
• Est. completion date: June 30, 2026

Study information

• Verified date: May 2023
• Source: Fudan University
• Contact: Zhen Hu, MD
• Phone: 86 21 64175590
• Email: zhenhu[@]fudan.edu.cn
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

This is a population-based, prospective, cohort study which has been ongoing in 3 provinces of eastern China since 2019. Up to 5000 breast cancer survivors will conduct BRCA1, BRCA2, PTEN, CHEK2, and PALB2 genetic susceptibility genes testing, fill in clinical and genetic information forms, and collect family history. Mutation rate of BRCA1/2 and other genetic susceptibility genes in Chinese community breast cancer population will be measured. Logistic regression will be performed to establish a prediction model for the probability of BRCA1/2 and other gene mutations. Kin-Cohort method will be used to calculate the penetrance of breast cancer and other common malignancies in BRCA1/2 and other genetic mutation carriers.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5000
• Est. completion date: June 30, 2026
• Est. primary completion date: March 31, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• 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.

Exclusion Criteria:

• 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.

Related Conditions & MeSH terms

• Breast Cancer
• Breast Neoplasms
• Disease Susceptibility
• Genetic Predisposition to Disease
• Genetic Susceptibility

Locations

Country	Name	City	State
China	Zhen Hu	Shanghai	Shanghai

Sponsors (1)

Lead Sponsor	Collaborator
Fudan University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Prediction model of Genetic Susceptibility Gene (BRCA1/2 etc) mutation probability	Logistic regression will be performed to establish a prediction model for the probability of pathogenic or likely pathogenic variants of BRCA1/2 and other genes. Candidate predictors included age, race or ethnic group, the mean number of tumor in a family etc. Missing data were imputed using multiple imputation by chained equations if needed. Model validation is based on k-fold cross validation approach. Model calibration and discrimination were evaluated using HL test and AUC, respectively. ORs and corresponding 95% CI will report.	1 year
Secondary	Breast cancer penetrance of Genetic Susceptibility Gene (BRCA1/2 etc) carriers	Kin-Cohort method will be used to calculate the penetrance of breast cancer and other common malignancies in BRCA1/2 and other genetic mutation carriers.	1 year