HRD Status Reference Standard Based on WGS

Lei Li

Status: Completed

Conditions: Ovarian Cancer

Treatments: Drug: PARPi

Study type: Observational

Funder types: Other

Identifiers

NCT06490380

HRDref-WGS

Details and patient eligibility

About

When evaluating the analytical performance of homologous recombination deficiency (HRD) status testing, there is currently no widely accepted reference standard. Therefore, a collaborative project was initiated to establish a HRD status reference standard for the industry. Although there is no genotyping strategy that is universally recognized as the most accurate for evaluating HRD status, whole-genome sequencing (WGS) is one of the best candidates.

Full description

• Primary objective: To establish a HRD status reference standard based on WGS.
• Secondary objective: To validate the analytical performance of panel HRD status using WGS HRD status as reference standard.
• Exploratory objective 1: To explore how methylation of selective genes correlate with WGS HRD status and efficacy.
• Exploratory objective 2: To explore how HRR gene mutations correlate with WGS HRD status and efficacy.
• Exploratory objective 3: To set up a harmonized bioinformatic analysis workflow for WGS HRD status.

Enrollment: 100 patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• At least 18 years of age at diagnosis
• Ovarian cancer, fallopian tube cancer, or primary peritoneal cancer
• High-grade serous or high-grade endometroid histological type
• FIGO stage II, III, or IV
• Complete response or partial response following completion of first-line adjuvant chemotherapy
• PARPi administered as first-line maintenance therapy

Exclusion criteria

• First-line surgery not conducted
• Total round of first-line chemotherapy (neoadjuvant and adjuvant) less than 5
• First-line PARPi maintenance therapy initiated beyond 12 weeks after last dose of chemotherapy
• Genotyping quality-control failed