BRCA Mutations, Hereditary Breast and Ovarian Cancer Syndrome
Conditions
Keywords
BRCA1 or BRCA2 germline mutations, hereditary ovarian cancer
Brief summary
Ovarian cancer is the gynecological malignancy with the highest fatality rate, seriously threatening the life and health of women. One of the main reasons for its high fatality rate is that approximately 70% of patients are diagnosed at an advanced stage. Fortunately, about 1/5 of ovarian cancers are associated with genetic factors, providing us with an opportunity to screen high-risk populations and thereby prevent and diagnose the disease at an early stage and reduce the disease burden. Currently, research related to hereditary ovarian cancer in China is still very scarce, and clinical practice relies on data from foreign studies. However, hereditary tumors have distinct regional and ethnic characteristics, making it urgent to conduct clinical research based on the Chinese population to guide clinical practice in China. Current research suggests that approximately 50% - 60% of hereditary ovarian cancers are closely related to the BRCA1/2 genes. Therefore, accurately assessing the risk of ovarian cancer in BRCA1/2 germline mutation carriers is of great significance for the prevention and treatment of hereditary ovarian cancer.
Detailed description
This study will adopt a multicenter ambispective cohort study design to comprehensively collect and analyze the clinical characteristics, family characteristics, gene mutation characteristics, and lifestyle data of BRCA1/2 germline mutation carriers. For family members who have not yet developed ovarian cancer at the time of enrollment, telephone follow-ups will be conducted once a year to longitudinally monitor ovarian cancer incidence and to collect diagnostic evidence.
Interventions
The proportion of BRCA1/2 germline mutation carriers in the high-risk population of ovarian cancer who undergo risk-reducing salpingo-oophorectomy (RRSO). RRSO refers to the preventive surgical removal of both fallopian tubes and ovaries to reduce the risk of ovarian cancer, fallopian tube cancer, and peritoneal cancer.
Sponsors
Peking University Third Hospital
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Pathologically diagnosed with ovarian malignant tumor. * Identified as carriers of BRCA1/2 germline pathogenic or likely pathogenic mutations through genetic testing, in accordance with the Standards and Guidelines for the Interpretation of Sequence Variants (2015 Edition) of the American College of Medical Genetics and Genomics (ACMG). * Age of 18 years or older. ④ Voluntary participation in this research and signing of the informed consent form.
Exclusion criteria
* ① Patients who refuse to provide necessary information.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The age at which pathologically diagnosed with ovarian malignant tumors (ICD-10 C56) | From enrollment to the end of follow-up at 5 years | The age at which pathologically diagnosed with ovarian malignant tumors (ICD-10 C56) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Acceptance rate of risk-reducing salpingo-oophorectomy (RRSO) among BRCA1/2 mutation carriers | From enrollment to the end of follow-up at 5 years | The proportion of BRCA1/2 germline mutation carriers in the high-risk population of ovarian cancer who undergo risk-reducing salpingo-oophorectomy (RRSO). RRSO refers to the preventive surgical removal of both fallopian tubes and ovaries to reduce the risk of ovarian cancer, fallopian tube cancer, and peritoneal cancer. |
Countries
China
Contacts
Primary ContactYuan Li
Outcome results
None listed