BRCA1 Mutation, BRCA2 Mutation, Chinese, Epithelial Ovarian Cancer, Homologous Recombination Deficiency, Prognosis
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTGenomic 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.
Sponsors
Lei Li
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of targeted genetic mutations | Two years | Frequency of pathogenic or likely pathogenic mutations in a multi-panel genes |
| Homologous recombination deficiency (HRD) score | Two years | 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) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Progression-free survival | Two years | Progression-free survival in recruited patients |
| Overall survival | Two years | Overall survival in recruited patients |
| Rate of sensitivity to platinum-based chemotherapy | Two years | Sensitivity to platinum-based chemotherapy in recruited patients |
| Rate of sensitivity to poly-(ADP-ribose) polymerase inhibitors | Two years | Sensitivity to poly-(ADP-ribose) polymerase inhibitors in recruited patients |
Countries
China
Contacts
Primary ContactLei Li
Backup ContactMing Wu
Outcome results
None listed