BRCA Awareness In 2020

Deleterious mutations in DNA repair pathways, including breast-cancer susceptibility gene 1 (BRCA1) and breast-cancer susceptibility gene 2 (BRCA2) mutation carries, predispose to an elevated risk for several familial tumor types, such as ovarian cancer (OC), breast cancer and prostate cancer.

In this scenario, due to its poor prognosis, OC management remains a major clinical problem and an in-depth analysis of the genomic landscape has gained a growing importance in the last few years. Women who carry a BRCA 1/2 mutation have long been known to present a substantial increased lifetime risk of OC development. Currently, several OC screening programs, including a detailed family history, clinical examination, transvaginal ultrasound and/or serum CA-125 on an annual basis, have been proposed and might be able to reduce OC incidence and mortality in this setting of patients [5]. The aim is to identify women population that could benefit from screening program as a means of early detention and possible prevention of advanced-stage disease. Available literature data do not support a definitive ovarian screening recommendation and the the lack of consistent screening methods of early OC detection, as well as the poor OC prognosis mentioned above, have worldwide elected the risk-reducing surgery as the most effective prophylactic measure for reducing OC risk in BRCA carries [6], [7]. This approach has raised many questions, especially on several aspects of health and patient’s quality of life (QoL).

This conference provides highlights in current risk-reducing OC strategies to potentially suggest a more tailored treatment approach in patients with BRCA1 and/or BRCA2 mutations.

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