Homologous Recombination Deficiency Status in Epithelial Ovarian Cancer

Lei Li

Status: Unknown

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

Treatments: Diagnostic Test: Genomic testing

Study type: Observational

Funder types: Other

Identifiers

NCT04190667

EOC-HRD

Details and patient eligibility

About

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.

Enrollment: 1,300 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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