HEREDITARY BREAST AND OVARIAN CANCER (HBOC, HEREDITARY BREAST AND OVARIAN CANCER)

Abstract

About 10% of all cases of breast cancer – the most common cancer type worldwide, and ovarian cancer – a rarer but considerably more aggressive cancer, are associated with an inherited (or germline) pathogenic mutation in a cancer predisposing gene. The identification of women at risk of carrying such a mutation is critical for an integrated diagnostic and therapeutic decision-making and is a responsibility of physicians of various specialties – GPs, oncologists, surgeons, geneticists. Detailed clinical guidelines were introduced in order to facilitate the selec-tion of patients for genetic testing that requires only simple EDTA-peripheral blood sampling. The detection of a pathogenic germline mutation, especially in the high-risk BRCA1 and BRCA2 genes, has significant consequences for both patient and relatives. Mutation carriers could consider specific diagnostic, prophylactic and therapeutic procedures, most of which are completely or partially reimbursed in many countries, regrettably not in Bulgaria yet. This review aims to shed light on the indications for and the advantages of BCRA1 and BRCA2 genetic testing in high-risk preselected patients and to assist the clinician in the diagnostic and therapeutic decision-making.