Clinical trial NCT06972693: NGS-based Germline and Somatic Genetic Test in Ovarian Carcinoma
Official title: Evaluating the Feasibility of NGS-based Germline and Somatic Genetic Testing in Ovarian Carcinoma. The PERSONA-ovary Trial
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: PHASE4
Conditions: Ovarian Carcinoma
Fallopian Tube Carcinoma
Primary Peritoneal Carcinoma
Lead sponsor: European Institute of Oncology
Sponsor class: OTHER
First posted: 2025-05-15
Enrollment: 323
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: prospective observational study
Primary purpose: DIAGNOSTIC

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.


Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

1. unable or unwilling to receive genetic counseling

Primary outcomes:
measure: Prevalence of clinically relevant mutations in ovarian cancer riskassociated genes
timeFrame: 3 months
measure: Percentage of informative specimens
timeFrame: 3 months
measure: Genetic test turnaround time
timeFrame: 3 months
Secondary outcomes:
measure: Incidence of all other mutations
timeFrame: 3 months
measure: progression-free survival
timeFrame: 10 years
measure: overall survival
timeFrame: 10 years
measure: Comparison of mutational profile across platforms: Devyser vs GerSom for BRC1/BRCA2
timeFrame: 3 months
measure: Comparison of mutational profile across platforms: Trusight vs GerSom for all variants covered by both panels
timeFrame: 3 months
Other outcomes:
Locations:
city: Milan
country: Italy
facility: Istituto Europeo di Oncologia
Study officials:
References: