Homologous Recombination Deficiency Status in Epithelial Ovarian Cancer

Study Overview
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Brief Summary
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The homologous recombination deficiency (HRD) status in Chinese population with epithelial ovarian cancer (EOC) is little known. This study would recruit 1300 Chinese EOC patients. A multi-panel testing of 36 genes would be given for these patients in their peripheral blood and tumor tissues. These 36 genes include: BRCA1, BRCA2, ABRAXAS1(FAM175A）, ATM, ATR, BAP1, BARD1, BRIP1, C11ORF30（EMSY）, CDK12, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCI, FANCL, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RAD54B, RAD54, MLH1, MSH2, MSH6, PMS2, EPCAM, STK11, TP53, CDH1. The study would select 150 patients with pathogenic or likely pathogenic mutations in BRCA1/2 and 150 patients without these mutations to further explore the HRD status. The HRD model is based on the loss of heterozygosity (LOH), telomere allele imbalance (TAI) and large-scale state transitions (LST). The mutated genes, HRD score model and their relationship with the prognosis, would provide a full description of for the Chinese EOC patients.

Official Title
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A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer

Conditions
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Epithelial Ovarian Cancer, Chinese, Homologous Recombination Deficiency, BRCA1 Mutation, BRCA2 Mutation, Prognosis

Intervention / Treatment
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* Diagnostic Test: Genomic testing


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Aged 18 years or older Pathological confirmation of epithelial ovarian cancer With available tumor tissues Given consents to participate the study Exclusion Criteria: Not meeting all of the inclusion criteria

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Diagnostic Test: Genomic testing|A multi-panel testing of 36 genes would be given for these patients in their peripheral blood and tumor tissues. These 36 genes include: BRCA1, BRCA2, ABRAXAS1(FAM175A）, ATM, ATR, BAP1, BARD1, BRIP1, C11ORF30（EMSY）, CDK12, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCI, FANCL, MRE11A, NBN, PALB2, PPP2R2A, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RAD54B, RAD54, MLH1, MSH2, MSH6, PMS2, EPCAM, STK11, TP53, CDH1. The study would select 150 patients with pathogenic or likely pathogenic mutations in BRCA1/2 and 150 patients without these mutations to further explore the HRD status.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of targeted genetic mutations | Frequency of pathogenic or likely pathogenic mutations in a multi-panel genes | Two years | 
| Homologous recombination deficiency (HRD) score | The HRD score for individual patient is a scale describing her HRD status. The score model is calculated by the analysis for three types of important molecular mechanism: loss of heterozygosity (LOH), telomere allele imbalance (TAI) and large-scale state transitions (LST) | Two years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Progression-free survival | Progression-free survival in recruited patients | Two years | 
| Overall survival | Overall survival in recruited patients | Two years | 
| Rate of sensitivity to platinum-based chemotherapy | Sensitivity to platinum-based chemotherapy in recruited patients | Two years | 
| Rate of sensitivity to poly-(ADP-ribose) polymerase inhibitors | Sensitivity to poly-(ADP-ribose) polymerase inhibitors in recruited patients | Two years |