RECENT ACHIEVEMENTS IN MOLECULAR DIAGNOSIS OF THE BREAST CARCINOMA

Abstract

Implementation of screening methods led to considerable improvement in early diagnosis, and as a result in mortality of breast cancer. But in spite of that malignant affection of this organ still remains one of the most frequent all over the world. This phenomenon could be partially explained by the lack of description in detail of biological heterogeneity of the mammary carcinomas that would take in consideration such aspects like molecular alterations, cellular content and the sensibility towards the treatment.

Because the histological model has a restricted prognostic utility and is totally valueless from the predictive point of view, the molecular “portrait” of the tumor became a stringent necessity worldwide. Initially, molecular techniques revealed the divers genetic profile, and later the heterogeneity of the expressed receptors within the same histological type, as well. The first molecular “portrait” has been realized by Perou et al., which analyzed the pattern of the genetic expression in 65 tumors taken from 42 patients [1]. After the analyzing of genetic subsets characteristic for each patient, based on the molecular profile of the tumor cells, the authors identified 4 distinct groups. These groups were named intrinsic molecular subtypes [1, 2]. This classification revealed the heterogeneity of breast cancer and was the first step in personalized therapy.