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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.
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.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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. |
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Inclusion Criteria:
Exclusion Criteria:
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Breast cancer patients from community.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Zhen Hu, MD | Contact | 86 21 64175590 | 65010 | zhenhu@fudan.edu.cn |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Zhen Hu | Recruiting | Shanghai | Shanghai Municipality | 200032 | China |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 40182128 | Derived | 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. |
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| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
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Peripheral blood or oral mucosa samples.
| 1 year |
| 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 |
| D017437 |
| Skin and Connective Tissue Diseases |
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |