A Cohort Study of Hereditary Ovarian Cancer Risk Prediction Models and Pathogenesis Exploration

June 17, 2025 updated by: Peking University Third Hospital

The aim of this project is to establish a bidirectional multicenter cohort of hereditary ovarian cancer and to describe the clinicopathologic features of hereditary ovarian cancer patients in our country. The risk prediction model of ovarian cancer for Chinese was established by following-up analysis of clinical and pathological information, genetic test results and detailed family history, to predict the risk of cancer in first-degree relatives of carriers of pathogenic/suspected pathogenic mutations, and to guide the intervention management of high-risk population of cancer.

The study will identify novel tumor-causing mutations/predisposing genes by gene sequencing in a special family with hereditary tumor.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

About 10%-20% of ovarian cancers have familial aggregation, suggesting that it may be hereditary ovarian cancer. Exploring a genetic ovarian cancer risk prediction model suitable for Chinese people will help quantify the risk of cancer in high risk groups and guide preventive interventions. The clinicopathology, gene mutation and family history of hereditary ovarian cancer need to be deeply analyzed, and the relevant research is still in the initial stage in China. At the same time, in a small number of ovarian cancer families with obvious familial aggregation, genetic testing failed to detect known pathogenic/possible pathogenic mutations in the germ line, suggesting that there may be a new pathogenic mechanism that needs further study.

Based on the above clinical issues, this project intends to establish a prospective multicenter cohort of hereditary ovarian cancer. To describe the clinicopathological and genetic mutation characteristics of hereditary ovarian cancer patients in China, and guide the individualized diagnosis and treatment of patients. Through follow-up analysis of clinicopathological information, gene mutation characteristics, detailed family history and other factors, a suitable ovarian cancer risk prediction model was established and preliminarily verified to guide the intervention management of high-risk groups. Special genetic ovarian cancer families or early-onset ovarian cancer cases were collected, and new tumor-causing mutations/susceptibility genes were explored through gene sequencing analysis, and functional verification and preliminary mechanism studies were conducted.

Relying on the National Clinical Research Center for Obstetrics and Gynecology, the research team has been engaged in the clinical diagnosis, treatment and scientific research of gynecological malignant tumors for a long time. In China, the gynecological tumor genetic consultation clinic was established earlier, and there are mature platforms for diagnosis, treatment and genetic blocking of hereditary ovarian cancer. Our research group has initially established a genetic ovarian cancer cohort in our hospital, which has included more than 1000 cases of patients with epithelial ovarian cancer and their families who have received surgical treatment in our hospital since 2016. In September 2022, it led the establishment of a multi-center gynecological tumor genetic diagnosis and treatment platform, with 11 sub-centers across the country working together to focus on the diagnosis, treatment and research of hereditary gynecological tumors.

The development of this project will establish the ovarian cancer risk prediction model suitable for Chinese people for the first time, and guide the prevention and intervention of high-risk groups. Through special genetic ovarian cancer family mining, to explore the new pathogenic mechanism of ovarian cancer, to guide the early diagnosis of hereditary ovarian cancer; At the same time, it will promote the individualized and accurate diagnosis and treatment of hereditary ovarian cancer patients.

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • China
    • Beijing
      • Beijing, Beijing, China, 100000
        • Recruiting
        • Peking University Third Hospital
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Chinese female population of different regions and different ages.

Description

Inclusion Criteria:

  • Epithelial ovarian cancer
  • ≥18 years
  • The pathological diagnosis was clear
  • The genetic test showed germ line pathogenic/suspected pathogenic mutations (for mutation interpretation, refer to the American ACMG Classification Standards and Guidelines for Genetic Variation)

Exclusion Criteria:

  • Non-epithelial ovarian cancer was confirmed by pathology
  • No genetic test has been performed

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Mutation carriers
Patients presented to our hospital with a definite pathological diagnosis of epithelial ovarian cancer, who carry suspective gene mutations or have family history of cancer.
Genetic: Suspective gene mutations and family history
To observe if the patients with suspective gene mutations or family history take higher risk of suffering from ovarian cancer.
Control group
Patients presented to our hospital with a definite pathological diagnosis of epithelial ovarian cancer, who don't carry any suspective gene mutations and have no family history of any type of cancer.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The clinicopathological features and gene mutation characteristics of hereditary ovarian cancer
Time Frame: 2024-2026

  • personal history (age, BMI, oral contraceptive use, hormone replacement therapy use, tubal ligation)

    • menstrual marriage and childbearing history (whether or not menopause, menopausal age, menarche age, the number of births)

      • personal history of tumor (history of malignant tumor, tumor type, pathological type, tumor stage, age of onset) ④family history of cancer (family history of cancer or not, number/person of cancer in first/second/third degree relatives, relationship with patients, tumor type, pathological type, tumor stage, age of onset, gene detection) ⑤results of gene detection (detection items, specimen type, mutation, mutated gene, cDNA change, amino acid change, mutation type, mutation significance)
2024-2026

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Newly diagnosed ovarian cancer in a first-degree relative
Time Frame: 2024-2026
The pathological diagnosis was epithelial ovarian cancer
2024-2026

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Peking University Third Hospital

Investigators

  • Principal Investigator: Hongyan Guo, Doctor, Peking University Third Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2024

Primary Completion (Estimated)

December 31, 2026

Study Completion (Estimated)

December 31, 2026

Study Registration Dates

First Submitted

August 19, 2024

First Submitted That Met QC Criteria

August 19, 2024

First Posted (Actual)

August 21, 2024

Study Record Updates

Last Update Posted (Actual)

June 18, 2025

Last Update Submitted That Met QC Criteria

June 17, 2025

Last Verified

May 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 000000 (MRDC)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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