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Ovarian NeoplasmsNCT06564428

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

An observational study of Ovarian Neoplasms, run by Peking University Third Hospital at 1 site in China.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

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. Read more about this study

Who is it for?
Ages 18 years and older, women only
Conditions the study is for
Ovarian Neoplasms
What is being tested?
Suspective gene mutations and family history
How many people
1,000 participants
Where
1 siteChina
Study dates
1 Jan 2024to 31 Dec 2026
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • Women only
  • No healthy volunteers
  • Adult, Older adult

Study population: Chinese female population of different regions and different ages.

Who may be able to join

  • 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)

Who cannot join

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

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Yuan Li, Doctor contact

18610689868

yuanli@bimu.edu.cn

China1 site, 1 recruiting
  • Peking University Third Hospital

    Beijing, Beijing Municipality, 100000

    Yuan Li, Doctor, 18610689868, yuanli@bimu.edu.cn

    Recruiting

Other trials in China

About this study

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.

Read the 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.

Being tested
Suspective gene mutations and family history
Medical subject headings
Ovarian Neoplasms

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Suspective gene mutations and family historyGenetic

    To observe if the patients with suspective gene mutations or family history take higher risk of suffering from ovarian cancer.

Study groups in NCT06564428
Study groupRoleWhat they receive
Mutation carriersPatients presented to our hospital with a definite pathological diagnosis of epithelial ovarian cancer, who carry suspective gene mutations or have family history of cancer.
Receives: Genetic: Suspective gene mutations and family history
Control groupPatients 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 being measured

The primary outcome is the main question the study is designed to answer.

  1. The clinicopathological features and gene mutation characteristics of hereditary ovarian cancer

    • 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)

    Measured: 2024-2026

Secondary outcomes (1)
  1. Newly diagnosed ovarian cancer in a first-degree relative

    The pathological diagnosis was epithelial ovarian cancer

    Measured: 2024-2026

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted21 Aug 2024
  2. Study start1 Jan 2024
  3. Primary completion31 Dec 2026 (estimated)
  4. Study completion31 Dec 2026 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
1,000 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT06564428
Sponsor's protocol ID
000000
Status last verified
May 2025
First submitted
19 Aug 2024
Last updated
18 Jun 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Undecided

Publications

  • Lheureux S, Gourley C, Vergote I, Oza AM. Epithelial ovarian cancer. Lancet. 2019 Mar 23;393(10177):1240-1253. doi: 10.1016/S0140-6736(18)32552-2.

    PubMed 30910306
  • Nielsen FC, van Overeem Hansen T, Sorensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer. 2016 Sep;16(9):599-612. doi: 10.1038/nrc.2016.72. Epub 2016 Aug 12.

    PubMed 27515922
  • Yoshida R. Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer. 2021 Nov;28(6):1167-1180. doi: 10.1007/s12282-020-01148-2. Epub 2020 Aug 29.

    PubMed 32862296
  • Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Milestones of Lynch syndrome: 1895-2015. Nat Rev Cancer. 2015 Mar;15(3):181-94. doi: 10.1038/nrc3878. Epub 2015 Feb 12.

    PubMed 25673086
  • US Preventive Services Task Force; Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, Caughey AB, Doubeni CA, Epling JW Jr, Kubik M, Landefeld CS, Mangione CM, Pbert L, Silverstein M, Simon MA, Tseng CW, Wong JB. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019 Aug 20;322(7):652-665. doi: 10.1001/jama.2019.10987.

    PubMed 31429903
  • Gilpin CA, Carson N, Hunter AG. A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet. 2000 Oct;58(4):299-308. doi: 10.1034/j.1399-0004.2000.580408.x.

    PubMed 11076055
  • Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E, Shenton A, Howell A, Lalloo F. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet. 2004 Jun;41(6):474-80. doi: 10.1136/jmg.2003.017996.

    PubMed 15173236
  • Bellcross CA, Lemke AA, Pape LS, Tess AL, Meisner LT. Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genet Med. 2009 Nov;11(11):783-9. doi: 10.1097/GIM.0b013e3181b9b04a.

    PubMed 19752737
  • Hoskins KF, Zwaagstra A, Ranz M. Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer. 2006 Oct 15;107(8):1769-76. doi: 10.1002/cncr.22202.

    PubMed 16967460
  • Ashton-Prolla P, Giacomazzi J, Schmidt AV, Roth FL, Palmero EI, Kalakun L, Aguiar ES, Moreira SM, Batassini E, Belo-Reyes V, Schuler-Faccini L, Giugliani R, Caleffi M, Camey SA. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer. 2009 Aug 14;9:283. doi: 10.1186/1471-2407-9-283.

    PubMed 19682358
  • Berliner JL, Cummings SA, Boldt Burnett B, Ricker CN. Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors. J Genet Couns. 2021 Apr;30(2):342-360. doi: 10.1002/jgc4.1374. Epub 2021 Jan 7.

    PubMed 33410258
  • Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E. Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst. 1997 Feb 5;89(3):227-38. doi: 10.1093/jnci/89.3.227.

    PubMed 9017003
  • Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998 Jan;62(1):145-58. doi: 10.1086/301670.

    PubMed 9443863
  • Berry DA, Iversen ES Jr, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, Rubinstein WS, Hughes KS, Parmigiani G. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002 Jun 1;20(11):2701-12. doi: 10.1200/JCO.2002.05.121.

    PubMed 12039933
  • Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002 Jan 7;86(1):76-83. doi: 10.1038/sj.bjc.6600008.

    PubMed 11857015

Questions about this trial

What is this clinical trial studying?

An observational study of Ovarian Neoplasms, run by Peking University Third Hospital at 1 site in China.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 18 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Yuan Li, Doctor (18610689868, yuanli@bimu.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

The clinicopathological features and gene mutation characteristics of hereditary ovarian cancer (time frame: 2024-2026). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT06564428, which also lists 19 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jun 2025.

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