Development and Validation of an Ovarian Cancer Risk Prediction Model for Family Members of Ovarian Cancer Probands

NCT07039552 | Recruiting

• 1 other identifier: Tengyun HOC
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Hereditary Breast and Ovarian Cancer Syndrome; BRCA Mutations

Keywords

BRCA1 or BRCA2 germline mutations; hereditary ovarian cancer

Outcome Measures

Primary Outcomes (1)

• The age at which pathologically diagnosed with ovarian malignant tumors (ICD-10 C56)

  The age at which pathologically diagnosed with ovarian malignant tumors (ICD-10 C56)

  From enrollment to the end of follow-up at 5 years

Secondary Outcomes (1)

• Acceptance rate of risk-reducing salpingo-oophorectomy (RRSO) among BRCA1/2 mutation carriers

  From enrollment to the end of follow-up at 5 years

Study Arms (1)

Members of ovarian cancer families carrying BRCA1/2 germline mutations

Members of ovarian cancer families carrying BRCA1/2 germline mutations，telephone follow-ups will be conducted once a year to longitudinally monitor ovarian cancer incidence and to collect diagnostic evidence.

Procedure: risk-reducing salpingo-oophorectomy (RRSO)

Interventions

risk-reducing salpingo-oophorectomy (RRSO) PROCEDURE

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.

Members of ovarian cancer families carrying BRCA1/2 germline mutations

Eligibility Criteria

• Age: 18 Years+
• Gender Eligibility Details: Only women can develop ovarian cancer
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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.

You may not qualify if:

• ① Patients who refuse to provide necessary information.

Sponsors & Collaborators

• Peking University Third Hospital: lead

Study Sites (1)

Peking University Third Hospital

Beijing, Beijing Municipality, 100191, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Participants in this study will have 4ml of peripheral blood collected for genetic testing

MeSH Terms

Conditions

Hereditary Breast and Ovarian Cancer Syndrome

Condition Hierarchy (Ancestors)

Breast Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Neoplasms; Endocrine Gland Neoplasms; Neoplastic Syndromes, Hereditary; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases; Gonadal Disorders

Central Study Contacts

Yuan Li

CONTACT

18610689868; yuanli@bjmu.edu.cn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 28, 2025
• First Posted: June 26, 2025
• Study Start: January 1, 2016
• Primary Completion (Estimated): December 30, 2028
• Study Completion (Estimated): December 30, 2035
• Last Updated: June 26, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)