Clinical trial · Observational
ScreenIng of Genetic Susceptibility Genes for Breast Cancer Patients in CHinese communiTies
Screening of Genetic Susceptibility Genes for Breast Cancer Patients and Establishment of High-risk Populations in Chinese Communities
NCT04265937CI-TRIAL-00066786SIGHTunknownClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Breast Cancer | Malignant Breast Neoplasm | CURATED_EXACT | 0.92 |
| Genetic Susceptibility | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- The frequency of pathogenic or likely pathogenic variants of BRCA1/2 and other genetic susceptibility genes in Chinese community breast cancer population
- timeFrame
- 1 year
- description
- 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.
Secondary outcomes (2)
- measure
- Prediction model of Genetic Susceptibility Gene (BRCA1/2 etc) mutation probability
- timeFrame
- 1 year
- description
- 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.
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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.
References
Publications (1)
- DERIVEDYu 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