NGS-based Germline and Somatic Genetic Test in Ovarian Carcinoma

NCT06972693 | Active Not Recruiting Phase 4

• 1 other identifier: IEO 791
• Study Type: interventional
• Target: 323
• Locations: 1 country
• Sites: 1

Brief Summary

For patients with ovarian cancer and biologically related diseases, the implementation of genetic testing in the decision-making process could have an impact both on the risk management for the patient and his/her family, but also, more importantly, on the therapeutic management. The identification of genetically predisposed subjects can suggest risk reduction strategies that may involve bilateral salpingo-oophorectomy, mastectomy or long-term medical approaches. In the advanced setting, genetic testing may influence the decision for medical therapy (e.g. use of platinum derivatives or PARP inhibitors in patients with "BRCAness+" ovarian cancer). The selection of patients for genetic testing has so far been restricted to patients with a strong family history of breast and ovarian cancer. It is now clear that the strict application of this criterion will result in a substantial number of people with a missed BRCA mutation. Systematic large-scale genetic testing, simultaneously on germline and somatic tissues, is likely to improve decision-making algorithms in ovarian cancer patients. The feasibility of such an approach in the clinical setting, in terms of response times compatible with clinical needs and sensitivity comparable if not superior to single-gene tests, needs to be demonstrated before such diagnostic platforms can be routinely implemented in the diagnostic workflow. This is the aim of the present study.

Conditions

Ovarian Carcinoma; Fallopian Tube Carcinoma; Primary Peritoneal Carcinoma

Outcome Measures

Primary Outcomes (3)

• Prevalence of clinically relevant mutations in ovarian cancer riskassociated genes

  evaluate prevalence of clinically relevant mutations in ovarian cancer risk associated genes

  3 months

• Percentage of informative specimens

  Percentage of informative specimens

  3 months

• Genetic test turnaround time

  Evaluate Genetic test turnaround time

  3 months

Secondary Outcomes (5)

• Incidence of all other mutations

  3 months

• progression-free survival

  10 years

• overall survival

  10 years

• Comparison of mutational profile across platforms: Devyser vs GerSom for BRC1/BRCA2

  3 months

• Comparison of mutational profile across platforms: Trusight vs GerSom for all variants covered by both panels

  3 months

Study Arms (1)

BRCA testing

OTHER

Genetic: BRCA testing

Interventions

BRCA testing GENETIC

BRCA 1 and 2 testing

BRCA testing

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• age 18 or higher
• has signed informed consent
• histologically confirmed ovarian cancer, Fallopian tube cancer, or primary peritoneal cancer.
• Any stage is admitted
• Any histology is admitted
• availability of surgical/bioptic material. Formalin-fixed, paraffinembedded or frozen specimens are both allowed, with no time limitation

You may not qualify if:

• \. unable or unwilling to receive genetic counseling

Sponsors & Collaborators

• European Institute of Oncology: lead

Study Sites (1)

Istituto Europeo di Oncologia

Milan, Italy, 20141, Italy

Location

MeSH Terms

Conditions

Ovarian Neoplasms; Fallopian Tube Neoplasms

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Endocrine System Diseases; Gonadal Disorders; Fallopian Tube Diseases

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: prospective observational study

Study Record Dates

• First Submitted: January 7, 2025
• First Posted: May 15, 2025
• Study Start: June 12, 2018
• Primary Completion: December 30, 2025
• Study Completion: December 30, 2025
• Last Updated: May 15, 2025

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)