BRCA1 and BRCA2: Current evidence

Partsinevelos G, Antsaklis A. 

1st Department of Obstetrics and Gynaecology University of Athens, “Alexandra” Maternity Hospital, Athens, Greece.

Correspondence: George Partsinevelos, 12 Tilou Str, 15124 Marousi.

Tel.: +30 210 6198489, Fax: +30 210 6983578, E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.




In recent years, as cancer is considered a genetic disease, resulting from hereditary or acquired genomic aberrations (mutations), the genetic background of breast cancer has gained great scientific, as well as clinical interest. Hereditary breast cancer accounts for 5-10% of breast cancer cases and is mostly attributed to mutations in BRCA1 and BRCA2 susceptibility genes. Mutation carriers are considered high risk for breast cancer development. In the light of recent advance in molecular biology and biotechnology, risk assessment via genetic testing aiming in the identification BRCA1 and BRCA2 mutations is feasible in clinical practice. Genetic counseling integrates the whole procedure in an attempt to reduce the risk of developing breast cancer in genetically susceptible women. From a clinical
point of view, management options include intensive surveillance, risk reducing surgery, chemoprevention and risk avoidance based on behavioral modifications. None of these options is regarded as the gold standard, while both benefits and risks of them are currently under consideration. Individual psychological factors, along with scientific evidence, have an important role in decision-making by a
healthy unaffected person susceptible to cancer development.

Key words: breast cancer; BRCA1; BRCA2; hereditary cancer; genetic testing; genetic counselling.