NGS-based Germline and Somatic Genetic Test in Ovarian Carcinoma

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.

Sex

Female

Minimum age

18 Years

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