BRCA2-ASSOCIATED BREAST, OVARIAN, PROSTATE, AND PANCREATIC CANCER. WHY DO WE NEED A GENETICIST?

Abstract

Hereditary Breast and Ovarian Cancer is an inherited susceptibility to organ-specific malignancies. A causative genetic variant can be identified by common molecular genetics techniques in up to 60% of the suspected cases. The identification of a particular HBOC associated germline pathogenic variant has an important diagnostic, prognostic, and to some extend – predictive significance for the patient; furthermore, it might significantly affect the lifestyle of first- and second-degree relatives. Although HBOC is already easily diagnosed and clinically managed in most countries, there are several obstacles for the patients in Bulgaria to benefit from the advances of genetics. For example, the HBOC syndrome is hardly ever recognized or acknowledged by the general practitioners or other physicians; there is a limited access to a genetic counselor with expertise in the field; the expensive molecular genetic testing is not covered by the health insurance funds; there are no multidisciplinary teams in the country to deliver comprehensive HBOC-patient care. In order to demonstrate the current situation in Bulgaria, we present a common BRCA2-associated HBOC clinical case from our practice.