Context
Women with a hereditary mutation in the BRCA1 or BRCA2 genes have a high lifetime risk of developing ovarian cancer. Current guidelines recommend that these women, typically between the ages of 35 and 40, consider risk-reducing surgery, such as a prophylactic salpingo-oophorectomy or hysterosalpingo-oophorectomy. These procedures can lower the risk of developing ovarian cancer by about 90%. However, it is important to note that this surgery lead to hormone deficiencies, infertility, and possibile surgical complications. For women who choose to delay or forgo surgery, there are no effective screening tests available. Instead, they will undergo monitoring every six months, which includes measuring the blood marker CA-125 and performing transvaginal ultrasound. It is essential to understand that there is no evidence that these tests improve survival rates. Detecting ovarian cancer at an early stage is critical for reducing mortality. Women diagnosed with early-stage ovarian cancer have significantly higher survival rates than those diagnosed at more advanced stages, and many of them can achieve a complete cure.
Some researchers have shown that tumor DNA from ovarian cancer can be found in the cervical canal by analyzing cervical swabs. This important finding led to the creation of the non-invasive diagnostic tool called Early oVArian cancer screening test (EVA test). This research project aims to demonstrate how effective the EVA test is for early detection of ovarian cancer in women with BRCA1 or BRCA2 gene mutations, who are at a high risk of developing this disease.
Analytical PICO framework and pathways to test and treat women with a hereditary mutation in the BRCA1 or BRCA2 genes
§ Population - Women with germline mutations of BRCA1 aged ≥35 years AND women with germline mutations of BRCA2 aged ≥40 years.
§ Intervention - The EVA test analyzes DNA from cervical swabs to check for any changes or abnormalities. The result of the EVA test is called the CPA score, which provides a numerical measure of these changes in the DNA. An AI-powered algorithm then uses the CPA score to determine whether the result is negative or positive.
§ Comparison -
1. Histological determination of occult malignancies by a pathologist according to the SEE-FIM protocol;
2. Measurement of the blood marker CA-125 and transvaginal ultrasound (standard-of-care).