Implications of Highly Penetrant Genetic Variants on Breast Surgery

Abstract

It seems the most probable beneficiaries from the molecular era are those harboring hereditary genetic variants, which are responsible for 5% to 10% of all breast cancer diagnoses. There are several key implications of such variants on clinical practice, from expedited anticipation of primary cancer diagnoses, which can have their risk mitigated by risk reduction surgery, to pragmatism surrounding the management of male breast cancer patients. This communication discusses the implications of highly penetrant (or pathogenic) hereditary variants in contemporary breast surgery practice.

Keywords: Breast cancer surgery; Genetic profiling; Hereditary breast cancer; Personalized medicine; Prophylactic surgery.