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

  • End date
    Jul 1, 2023
  • participants needed
  • sponsor
    Fudan University
Updated on 11 May 2022


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.

Condition Breast Cancer, Genetic Susceptibility
Clinical Study IdentifierNCT04265937
SponsorFudan University
Last Modified on11 May 2022


Yes No Not Sure

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
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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