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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
| |
| 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. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Suspective gene mutations and family history | Genetic | To observe if the patients with suspective gene mutations or family history take higher risk of suffering from ovarian cancer. |
| Measure | Description | Time Frame |
|---|---|---|
| The clinicopathological features and gene mutation characteristics of hereditary ovarian cancer |
| 2024-2026 |
| Measure | Description | Time Frame |
|---|---|---|
| Newly diagnosed ovarian cancer in a first-degree relative | The pathological diagnosis was epithelial ovarian cancer | 2024-2026 |
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Inclusion Criteria:
Exclusion Criteria:
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Chinese female population of different regions and different ages.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yuan Li, Doctor | Contact | 18610689868 | yuanli@bimu.edu.cn |
| Name | Affiliation | Role |
|---|---|---|
| Hongyan Guo, Doctor | Peking University Third Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Peking University Third Hospital | Recruiting | Beijing | Beijing Municipality | 100000 | China |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30910306 | Background | 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. | |
| 27515922 | Background | 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. |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP_ICF | Yes | Yes | Yes | Study Protocol, Statistical Analysis Plan, and Informed Consent Form | May 2, 2025 | Jun 2, 2025 | Prot_SAP_ICF_001.pdf |
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| ID | Term |
|---|---|
| D010051 | Ovarian Neoplasms |
| ID | Term |
|---|---|
| D004701 | Endocrine Gland Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D010049 | Ovarian Diseases |
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blood sample for genetic testing
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| 25673086 | Background | 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. |
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| 15173236 | Background | 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. |
| 19752737 | Background | 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. |
| 16967460 | Background | 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. |
| 19682358 | Background | 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. |
| 33410258 | Background | 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. |
| 9017003 | Background | 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. |
| 9443863 | Background | 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. |
| 12039933 | Background | 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. |
| 11857015 | Background | 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. |
| 15381934 | Background | Antoniou AC, Pharoah PP, Smith P, Easton DF. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer. 2004 Oct 18;91(8):1580-90. doi: 10.1038/sj.bjc.6602175. |
| 36162851 | Background | Lee A, Mavaddat N, Cunningham A, Carver T, Ficorella L, Archer S, Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J, Schmidt MK, Devilee P, Zadnik V, Jurgens H, Mouret-Fourme E, De Pauw A, Rookus M, Mooij TM, Pharoah PP, Easton DF, Antoniou AC. Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence. J Med Genet. 2022 Dec;59(12):1206-1218. doi: 10.1136/jmedgenet-2022-108471. Epub 2022 Sep 26. |
| 35027648 | Background | Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmana J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators; Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dork T, du Bois A, Durst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group; Hahnen E, Haiman CA, Hakansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Hogdall E, Hogdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN; KConFab Investigators; HEBON Investigators; Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubinski J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamarina M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB; OCAC Consortium; CIMBA Consortium; Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 Mar;30(3):349-362. doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14. |
| 32259785 | Background | Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Dwyer MA, Darlow SD. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017. |
| D000291 |
| Adnexal Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D005833 | Genital Neoplasms, Female |
| D014565 | Urogenital Neoplasms |
| D000091662 | Genital Diseases |
| D004700 | Endocrine System Diseases |
| D006058 | Gonadal Disorders |